MYH7 ELISA Kit for Human(Homo sapiens) | EIAab.comMYH7 ELISA Kit for Human(Homo sapiens)

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MYH7 (Gene name),

Myosin-7 (Protein name ), MYH7_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

MYH7(MYHCB);

Protein name:

Myosin-7;

Alternative:

Myosin heavy chain slow isoform(MyHC-slow);Myosin heavy chain 7;Myosin heavy chain, cardiac muscle beta isoform(MyHC-beta);

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Interacts with ECM29.

Function:

Muscle contraction.

Subcellular Location:

Cytoplasm myofibril Thick filaments of the myofibrils.

Protein Attributes:

Sequence length:

1935

Sequence:

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1935:

HELDEAEERA | DIAESQVNKL | RAKSRDIGTK | GLNEE

3D Structure:

N/A

Predicted Eptitope:

Please Sign in.

Vaild Sequence:

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Related Databases

SMR:

P12883

MIM:

160500

UniGene:

Hs.719946

Pfam:

PF00063

KEGG:

hsa:4625

String:

P12883

Uniprot:

P12883

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ELISA Kit for Human Myosin-7

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E0163p

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96T

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ELISA Kit for Human Myosin-7

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E0163h

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96T

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ELISA Kit for Human Myosin-7

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E0163b

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96T

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ELISA Kit for Human Myosin-7

Cat.:

E0163r

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96T

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ELISA Kit for Human Myosin-7

MSDS:

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ELISA Kit for Human Myosin-7

Cat.:

E0163m

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MSDS:

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Packing:

96T

ELISA Kit for Human Myosin-7

Cat.:

E0163d

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96T

CLIA Kit for Human Myosin-7

Cat.:

U0163d

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MSDS:

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96T

CLIA Kit for Human Myosin-7

Cat.:

U0163r

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96T

CLIA Kit for Human Myosin-7

Cat.:

U0163h

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96T

CLIA Kit for Human Myosin-7

MSDS:

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CLIA Kit for Human Myosin-7

Cat.:

U0163p

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Manual:

Looking for manual.

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Packing:

96T

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CLIA Kit for Human Myosin-7

Cat.:

U0163m

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Packing:

96T

CLIA Kit for Human Myosin-7

Cat.:

U0163b

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96T

Polyclonal Antibody for Human Myosin-7

Cat.:

P0163Rb-r

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Packing:

40ug/0.2ml

Polyclonal Antibody for Human Myosin-7

Cat.:

P0163Rb-h

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40ug/0.2ml

Polyclonal Antibody for Human Myosin-7

Cat.:

P0163Rb-m

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40ug/0.2ml

Polyclonal Antibody for Human Myosin-7

Monoclonal Antibody for Human Myosin-7

Protein for Human Myosin-7

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

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Recovery

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Linearity

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References

1.

"The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product."
Jaenicke T. , Diederich K.W. , Haas W. , Schleich J. , Lichter P. , Pfordt M. , Bach A. , Vosberg H.P.
Genomics8:194-206(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA];VARIANT SER-1124
2.

"Complete sequence and organization of the human cardiac beta-myosin heavy chain gene."
Liew C.-C. , Sole M.J. , Yamauchi-Takihara K. , Kellam B. , Anderson D.H. , Lin L. , Liew J.
Nucleic Acids Res.18:3647-3651(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT GLU-107
3.

"The human beta-myosin heavy chain gene: sequence diversity and functional characteristics of the protein."
Wendel B. , Reinhard R. , Wachtendorf U. , Zacharzowsky U.B. , Osterziel K.J. , Schulte H.D. , Haase H. , Hoehe M.R. , Morano I.
J. Cell. Biochem.79:566-575(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
4.

"Diverse clinicopathologic profiles and determinants of progressive heart failure in hypertrophic cardiomyopathy."
Smaniotto G. , Melacini P.
Submitted (2008-05) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
5.

NHLBI resequencing and genotyping service (RS&G)
Submitted (2006-12) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
6.

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
7.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
8.

"Characterization of human cardiac myosin heavy chain genes."
Yamauchi-Takihara K. , Sole M.J. , Liew J. , Ing D. , Liew C.-C.
Proc. Natl. Acad. Sci. U.S.A.86:3504-3508(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-176;VARIANT GLU-107
9.

Yamauchi-Takihara K. , Sole M.J. , Liew J. , Ing D. , Liew C.-C.
Proc. Natl. Acad. Sci. U.S.A.86:7416-7417(1989)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
10.

"Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy."
Cuda G. , Fananapazir L. , Zhu W.S. , Sellers J.R. , Epstein N.D.
J. Clin. Invest.91:2861-2865(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 370-434;TISSUE SPECIFICITY;VARIANT GLN-403
tissue: Skeletal muscle.
11.

"Isolation and characterization of the complete human beta-myosin heavy chain gene."
Diederich K.W. , Eisele I. , Ried T. , Jaenicke T. , Lichter P. , Vosberg H.P.
Hum. Genet.81:214-220(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 653-720
12.

"Partial characterization of the human beta-myosin heavy-chain gene which is expressed in heart and skeletal muscle."
Lichter P. , Umeda P.K. , Levin J.E. , Vosberg H.P.
Eur. J. Biochem.160:419-426(1986) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 684-721; 975-1111 AND 1853-1935
13.

"Identification of three developmentally controlled isoforms of human myosin heavy chains."
Bober E. , Buchberger-Seidl A. , Braun T. , Singh S. , Goedde H.W. , Arnold H.H.
Eur. J. Biochem.189:55-65(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 785-1935
tissue: Skeletal muscle.
14.

"Characterization of diverse forms of myosin heavy chain expressed in adult human skeletal muscle."
Saez L. , Leinwand L.A.
Nucleic Acids Res.14:2951-2969(1986) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1310-1935
15.

Leinwand L.A.
Submitted (1988-03) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SEQUENCE REVISION
16.

"Construction of a human ventricular cDNA library and characterization of a beta myosin heavy chain cDNA clone."
Jandreski M.A. , Liew C.-C.
Hum. Genet.76:47-53(1987) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1393-1935
17.

"Molecular cloning and characterization of human cardiac alpha- and beta-form myosin heavy chain complementary DNA clones. Regulation of expression during development and pressure overload in human atrium."
Kurabayashi M. , Tsuchimochi H. , Komuro I. , Takaku F. , Yazaki Y.
J. Clin. Invest.82:524-531(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1412-1935
18.

"Human cardiac myosin heavy chain genes and their linkage in the genome."
Saez L.J. , Gianola K.M. , McNally E.M. , Feghali R. , Eddy R. , Shows T.B. , Leinwand L.A.
Nucleic Acids Res.15:5443-5459(1987) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1854-1935
19.

"Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy."
Arai S. , Matsuoka R. , Hirayama K. , Sukurai H. , Tamura M. , Ozawa T. , Kimura M. , Imamura S. , Furutani Y. , Joh-o K. , Kawana M. , Takao A. , Hosoda S. , Momma K.
Am. J. Med. Genet.58:267-276(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
20.

"A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components."
Gorbea C. , Pratt G. , Ustrell V. , Bell R. , Sahasrabudhe S. , Hughes R.E. , Rechsteiner M.
J. Biol. Chem.285:31616-31633(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH ECM29
21.

"A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation."
Geisterfer-Lowrance A.A.T. , Kass S. , Tanigawa G. , Vosberg H.-P. , McKenna W. , Seidman C.E. , Seidman J.G.
Cell62:999-1006(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH1 GLN-403
22.

"Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy."
Nishi H. , Kimura A. , Harada H. , Toshima H. , Sasazuki T.
Biochem. Biophys. Res. Commun.188:379-387(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH1 ASN-615
23.

"Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu-->Val mutation and a 403Arg-->Gln mutation."
Epstein N.D. , Cohn G.M. , Cyran F. , Fananapazir L.
Circulation86:345-352(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 GLN-403 AND VAL-908
24.

"Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy."
Watkins H. , Rosenzweig A. , Hwang D.S. , Levi T. , McKenna W. , Seidmann C.E. , Seidmann J.G.
N. Engl. J. Med.326:1108-1114(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 GLN-249; GLN-403; CYS-453 AND MET-606
25.

"Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy."
Watkins H. , Thierfelder L. , Anan R. , Jarcho J. , Matsumori A. , McKenna W. , Seidman J.G. , Seidman C.E.
Am. J. Hum. Genet.53:1180-1185(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 GLN-403; CYS-453; ARG-584 AND MET-606
26.

"A missense mutation of cardiac beta-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families."
Harada H. , Kimura A. , Nishi H. , Sasazuki T. , Toshima H.
Biochem. Biophys. Res. Commun.194:791-798(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH1 GLY-778
27.

"Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy."
Al-Mahdawi S. , Chamberlain S. , Cleland J. , Nihoyannopoulos P. , Gilligan D. , French J. , Choudhury L. , Williamson R. , Oakley C.
Br. Heart J.69:136-141(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH1 VAL-908
28.

"Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy."
Moolman J.C. , Brink P.A. , Corfield V.A.
Hum. Mol. Genet.2:1731-1732(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH1 TRP-403
29.

"Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene."
Dausse E. , Komajda M. , Fetler L. , Dubourg O. , Dufour C. , Carrier L. , Wisnewsky C. , Bercovici J. , Hengstenberg C. , Al-Mahdawi S.
J. Clin. Invest.92:2807-2813(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 LEU-403 AND TRP-403
30.

"Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy."
Fananapazir L. , Dalakas M.C. , Cyran F. , Cohn G. , Epstein N.D.
Proc. Natl. Acad. Sci. U.S.A.90:3993-3997(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 GLU-256 AND ARG-741
31.

"A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy."
Consevage M.W. , Salada G.C. , Baylen B.G. , Ladda R.L. , Rogan P.K.
Hum. Mol. Genet.3:1025-1026(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH1 GLN-719
32.

"Isolation of a de novo mutant myocardial beta MHC protein in a pedigree with hypertrophic cardiomyopathy."
Greve G. , Bachinski L. , Friedman D.L. , Czernuzewicz G. , Anan R. , Towbin J.A. , Seidman C.E. , Roberts R.
Hum. Mol. Genet.3:2073-2075(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH1 TRP-719
33.

"Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy."
Anan R. , Greve G. , Thierfelder L. , Watkins H. , McKenna W. , Solomon S. , Vecchio C. , Shono H. , Nakao S. , Tanaka H. , Mares A. Jr. , Towbin J.A. , Spirito P. , Roberts R. , Seidman J.G. , Seidman C.E.
J. Clin. Invest.93:280-285(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 CYS-513; ARG-716 AND TRP-719
34.

"Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy."
Moolman J.C. , Brink P.A. , Corfield V.A.
Hum. Mutat.6:197-198(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH1 THR-797
35.

"Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy."
Rayment I. , Holden H.M. , Sellers J.R. , Fananapazir L. , Epstein N.D.
Proc. Natl. Acad. Sci. U.S.A.92:3864-3868(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 ILE-124; CYS-162; LYS-187; LYS-222; LEU-244; HIS-663; ASN-782 AND HIS-870
36.

"Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure."
Ko Y.-L. , Chen J.-J. , Tang T.-K. , Cheng J.-J. , Lin S.-Y. , Liou Y.-C. , Kuan P. , Wu C.-W. , Lien W.-P. , Liew C.-C.
Hum. Genet.97:585-590(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH1 CYS-453
37.

"Identification of a novel missense mutation in the cardiac beta-myosin heavy chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy."
Kuang S.-Q. , Yu J.-D. , Lu L. , He L.-M. , Gong L.-S. , Chen S.-J. , Chen Z.
J. Mol. Cell. Cardiol.28:1879-1883(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH1 ASN-383
38.

"Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure."
Arbustini E. , Fasani R. , Morbini P. , Diegoli M. , Grasso M. , Dal Bello B. , Marangoni E. , Banfi P. , Banchieri N. , Bellini O. , Comi G. , Narula J. , Campana C. , Gavazzi A. , Danesino C. , Vigano M.
Heart80:548-558(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 GLN-249 AND GLU-450
39.

Arbustini E. , Fasani R. , Morbini P. , Diegoli M. , Grasso M. , Dal Bello B. , Marangoni E. , Banfi P. , Banchieri N. , Bellini O. , Comi G. , Narula J. , Campana C. , Gavazzi A. , Danesino C. , Vigano M.
Heart81:330-330(1999)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
40.

"A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes."
Jeschke B. , Uhl K. , Weist B. , Schroder D. , Meitinger T. , Dohlemann C. , Vosberg H.-P.
Hum. Genet.102:299-304(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 THR-349 AND TRP-719
41.

"Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy."
Tesson F. , Richard P. , Charron P. , Mathieu B. , Cruaud C. , Carrier L. , Dubourg O. , Lautie N. , Desnos M. , Millaire A. , Isnard R. , Hagege A.A. , Bouhour J.-B. , Bennaceur M. , Hainque B. , Guicheney P. , Schwartz K. , Komajda M.
Hum. Mutat.12:385-392(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 THR-263; TRP-719; CYS-723 AND GLU-930 DEL
42.

"The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population."
Jaeaeskelaeinen P. , Soranta M. , Miettinen R. , Saarinen L. , Pihlajamaeki J. , Silvennoinen K. , Tikanoja T. , Laakso M. , Kuusisto J.
J. Am. Coll. Cardiol.32:1709-1716(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 SER-696 AND TRP-719
43.

"The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events."
Moolman-Smook J.C. , De Lange W.J. , Bruwer E.C.D. , Brink P.A. , Corfield V.A.
Am. J. Hum. Genet.65:1308-1320(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 TRP-403; LYS-499; GLN-719 AND THR-797
44.

"Adult-onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene."
Andersen P.S. , Havndrup O. , Bundgaard H. , Larsen L.A. , Vuust J. , Kjeldsen K. , Christiansen M.
Clin. Genet.56:244-246(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH1 CYS-694
45.

"Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain."
Bundgaard H. , Havndrup O. , Andersen P.S. , Larsen L.A. , Brandt N.J. , Vuust J. , Kjeldsen K. , Christiansen M.
J. Mol. Cell. Cardiol.31:745-750(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH1 THR-190
46.

"A novel missense mutation (R712L) adjacent to the 'active thiol' region of the cardiac beta-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family."
Sakthivel S. , Joseph P.K. , Tharakan J.M. , Vosberg H.-P. , Rajamanickam C.
Hum. Mutat.15:298-299(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH1 LEU-712
47.

"Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy."
Anan R. , Shono H. , Tei C.
Hum. Mutat.15:584-584(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 CYS-869 AND CYS-870
48.

"Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene."
Enjuto M. , Francino A. , Navarro-Lopez F. , Viles D. , Pare J.-C. , Ballesta A.M.
J. Mol. Cell. Cardiol.32:2307-2313(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH1 GLY-723
49.

"Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy."
Kamisago M. , Sharma S.D. , DePalma S.R. , Solomon S. , Sharma P. , McDonough B. , Smoot L. , Mullen M.P. , Woolf P.K. , Wigle E.D. , Seidman J.G. , Seidman C.E.
N. Engl. J. Med.343:1688-1696(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMD1S PRO-532 AND LEU-764
50.

"A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy."
Havndrup O. , Bundgaard H. , Andersen P.S. , Larsen L.A. , Vuust J. , Kjeldsen K. , Christiansen M.
Scand. Cardiovasc. J.34:558-563(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH1 VAL-390
51.

"The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation."
Davis J.S. , Hassanzadeh S. , Winitsky S. , Lin H. , Satorius C. , Vemuri R. , Aletras A.H. , Wen H. , Epstein N.D.
Cell107:631-641(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH1 ASP-743
52.

"Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy."
Blair E. , Price S.J. , Baty C.J. , Oestman-Smith I. , Watkins H.
J. Med. Genet.38:385-388(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH1 VAL-728
53.

"Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children."
Greber-Platzer S. , Marx M. , Fleischmann C. , Suppan C. , Dobner M. , Wimmer M.
J. Mol. Cell. Cardiol.33:141-148(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 GLN-249; MET-406; CYS-453; MET-606; HIS-663 AND LYS-877
54.

"Novel mutations in sarcomeric protein genes in dilated cardiomyopathy."
Daehmlow S. , Erdmann J. , Knueppel T. , Gille C. , Froemmel C. , Hummel M. , Hetzer R. , Regitz-Zagrosek V.
Biochem. Biophys. Res. Commun.298:116-120(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMD1S THR-223 AND LEU-642
55.

"Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy."
Ho C.Y. , Sweitzer N.K. , McDonough B. , Maron B.J. , Casey S.A. , Seidman J.G. , Seidman C.E. , Solomon S.D.
Circulation105:2992-2997(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 HIS-663; TRP-719; ARG-768 AND GLY-906
56.

"Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy."
Blair E. , Redwood C. , de Jesus Oliveira M. , Moolman-Smook J.C. , Brink P. , Corfield V.A. , Oestman-Smith I. , Watkins H.
Circ. Res.90:263-269(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 THR-1379 AND GLY-1776;VARIANT CYS-1491
57.

"Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy."
Waldmueller S. , Freund P. , Mauch S. , Toder R. , Vosberg H.-P.
Hum. Mutat.19:560-569(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 GLN-249; THR-349; GLN-403; ARG-595; MET-606; GLN-719; TRP-719; GLU-927 DEL AND LYS-1555
58.

"Myosin storage myopathy associated with a heterozygous missense mutation in MYH7."
Tajsharghi H. , Thornell L.-E. , Lindberg C. , Lindvall B. , Henriksson K.-G. , Oldfors A.
Ann. Neurol.54:494-500(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MYOMS TRP-1845
59.

"Hypertrophic cardiomyopathy: two homozygous cases with 'typical' hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."
Nanni L. , Pieroni M. , Chimenti C. , Simionati B. , Zimbello R. , Maseri A. , Frustaci A. , Lanfranchi G.
Biochem. Biophys. Res. Commun.309:391-398(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 CYS-453; MET-517 AND GLU-734
60.

"Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations."
Havndrup O. , Bundgaard H. , Andersen P.S. , Larsen L.A. , Vuust J. , Kjeldsen K. , Christiansen M.
Cardiovasc. Res.57:347-357(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 THR-190; MET-320; VAL-390; VAL-601; MET-606; CYS-694; GLU-778 AND GLN-846
61.

"Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy."
Richard P. , Charron P. , Carrier L. , Ledeuil C. , Cheav T. , Pichereau C. , Benaiche A. , Isnard R. , Dubourg O. , Burban M. , Gueffet J.-P. , Millaire A. , Desnos M. , Schwartz K. , Hainque B. , Komajda M.
Circulation107:2227-2232(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 MET-39; ASN-188; HIS-204; SER-232; GLN-249; THR-263; THR-355; LEU-403; GLN-403; TRP-403; VAL-428; THR-443; CYS-453; SER-479; LYS-483; MET-606; ILE-659; SER-663; HIS-663; CYS-671; ARG-716; GLN-719; TRP-719; CYS-723; GLU-733; ARG-741; ARG-768; GLU-778; HIS-787; THR-852; GLY-869; GLU-883 DEL; GLU-930 DEL; ARG-1135; GLN-1218; MET-1377; THR-1379; TRP-1382 AND THR-1777;VARIANT MET-1692
62.

Richard P. , Charron P. , Carrier L. , Ledeuil C. , Cheav T. , Pichereau C. , Benaiche A. , Isnard R. , Dubourg O. , Burban M. , Gueffet J.-P. , Millaire A. , Desnos M. , Schwartz K. , Hainque B. , Komajda M.
Circulation109:3258-3258(2004)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
63.

"Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy."
Erdmann J. , Daehmlow S. , Wischke S. , Senyuva M. , Werner U. , Raible J. , Tanis N. , Dyachenko S. , Hummel M. , Hetzer R. , Regitz-Zagrosek V.
Clin. Genet.64:339-349(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 TRP-143; TRP-403; ILE-411; SER-584; HIS-694; TRP-719; THR-736; PHE-796; ILE-824; HIS-870; PHE-905; GLN-924 AND ASN-928
64.

"Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations."
Mohiddin S.A. , Begley D.A. , McLam E. , Cardoso J.-P. , Winkler J.B. , Sellers J.R. , Fananapazir L.
Genet. Test.7:21-27(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 GLY-143; ILE-148; GLN-207; LEU-211; GLU-351; GLN-403; SER-479; ALA-500; ARG-571; HIS-663; CYS-671; THR-736; GLY-763; ASN-782; LEU-822; GLU-882 AND VAL-908
65.

"Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis."
Woo A. , Rakowski H. , Liew J.C. , Zhao M.-S. , Liew C.-C. , Parker T.G. , Zeller M. , Wigle E.D. , Sole M.J.
Heart89:1179-1185(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 THR-196; LEU-211; GLN-249; GLN-403; LEU-404; ILE-411; CYS-453; ARG-716; CYS-870; VAL-908 AND LYS-930
66.

"Three novel mutations in exon 21 encoding beta-cardiac myosin heavy chain."
Moric E. , Mazurek U. , Polonska J. , Domal-Kwiatkowska D. , Smolik S. , Kozakiewicz K. , Tendera M. , Wilczok T.
J. Appl. Genet.44:103-109(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 VAL-774 AND ASN-782
67.

"Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden."
Moerner S. , Richard P. , Kazzam E. , Hellman U. , Hainque B. , Schwartz K. , Waldenstroem A.
J. Mol. Cell. Cardiol.35:841-849(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 GLU-430 AND LYS-924
68.

Richard P.

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: LACK OF ASSOCIATION OF VARIANT MET-1692 WITH HYPERTROPHIC CARDIOMYOPATHY
69.

"Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1)."
Meredith C. , Herrmann R. , Parry C. , Liyanage K. , Dye D.E. , Durling H.J. , Duff R.M. , Beckman K. , de Visser M. , van der Graaff M.M. , Hedera P. , Fink J.K. , Petty E.M. , Lamont P. , Fabian V. , Bridges L. , Voit T. , Mastaglia F.L. , more...
Am. J. Hum. Genet.75:703-708(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS MPD1 PRO-1500; LYS-1617 DEL; PRO-1663; PRO-1706 AND LYS-1729 DEL
70.

"Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy."
Van Driest S.L. , Jaeger M.A. , Ommen S.R. , Will M.L. , Gersh B.J. , Tajik A.J. , Ackerman M.J.
J. Am. Coll. Cardiol.44:602-610(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 HIS-115; GLN-143; MET-263; CYS-312; THR-349; VAL-385; GLN-403; MET-404; VAL-407; VAL-428; MET-440; CYS-453; THR-511; ARG-515; CYS-663; HIS-663; CYS-694; ARG-716; GLN-719; ARG-741; VAL-778; THR-797; LYS-847 DEL; CYS-858; HIS-869; GLY-894; VAL-908; LYS-921; LYS-924; LYS-931; HIS-953; SER-1057; LYS-1356; MET-1377; TRP-1420; ASN-1459; SER-1513; LYS-1768; MET-1854 AND MET-1929;VARIANTS CYS-1491 AND ASN-1919
71.

"Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy."
Bohlega S. , Abu-Amero S.N. , Wakil S.M. , Carroll P. , Al-Amr R. , Lach B. , Al-Sayed Y. , Cupler E.J. , Meyer B.F.
Neurology62:1518-1521(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MYOMS LEU-1901
72.

"Mutations profile in Chinese patients with hypertrophic cardiomyopathy."
Song L. , Zou Y. , Wang J. , Wang Z. , Zhen Y. , Lou K. , Zhang Q. , Wang X. , Wang H. , Li J. , Hui R.
Clin. Chim. Acta351:209-216(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 VAL-26; GLN-143; ARG-425; THR-450; PHE-511; GLN-615; CYS-663; HIS-663; PRO-734; ARG-741; THR-822; GLU-823; HIS-858; LYS-924 AND LYS-930
73.

"Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene."
Villard E. , Duboscq-Bidot L. , Charron P. , Benaiche A. , Conraads V. , Sylvius N. , Komajda M.
Eur. Heart J.26:794-803(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMD1S THR-201; ASN-412; VAL-550; ASN-1019; SER-1193; LYS-1426 AND CYS-1634;VARIANT CYS-1491
74.

"One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations in MYH7 rod region."
Hougs L. , Havndrup O. , Bundgaard H. , Koeber L. , Vuust J. , Larsen L.A. , Christiansen M. , Andersen P.S.
Eur. J. Hum. Genet.13:161-165(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 LYS-1327; TRP-1712 AND LYS-1753;VARIANTS CYS-1475 AND CYS-1491
75.

"Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease."
Yu B. , Sawyer N.A. , Caramins M. , Yuan Z.G. , Saunderson R.B. , Pamphlett R. , Richmond D.R. , Jeremy R.W. , Trent R.J.
J. Clin. Pathol.58:479-485(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 VAL-227; GLY-328; GLU-351; GLN-403; TRP-403; ILE-411; THR-435; CYS-453; HIS-453; MET-606; CYS-663; GLN-719; TRP-719; HIS-787; GLY-894; VAL-908 AND LYS-927;VARIANT CYS-1519
76.

"Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling."
Ingles J. , Doolan A. , Chiu C. , Seidman J. , Seidman C. , Semsarian C.
J. Med. Genet.42:E59-E59(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 ASN-146; LEU-186; MET-606; HIS-663; ALA-698; GLN-719; CYS-723; THR-736; GLU-742 AND ASP-1057
77.

"Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy."
Perrot A. , Schmidt-Traub H. , Hoffmann B. , Prager M. , Bit-Avragim N. , Rudenko R.I. , Usupbaeva D.A. , Kabaeva Z. , Imanov B. , Mirrakhimov M.M. , Dietz R. , Wycisk A. , Tendera M. , Gessner R. , Osterziel K.J.
J. Mol. Med.83:468-477(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 LEU-211; TRP-403; CYS-453; CYS-501; ARG-576; THR-736; TRP-741; GLY-901; ASN-928; LYS-1356 AND THR-1454
78.

"Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy."
Tanjore R.R. , Sikindlapuram A.D. , Calambur N. , Thakkar B. , Kerkar P.G. , Nallari P.
Clin. Genet.69:434-436(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH1 HIS-870
79.

"Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene."
Mora R. , Merino J.L. , Peinado R. , Olias F. , Garcia-Guereta L. , del Cerro M.J. , Tarin M.N. , Molano J.
Rev. Esp. Cardiol.59:846-849(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 VAL-515 AND CYS-858
80.

"Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy."
Tajsharghi H. , Oldfors A. , Macleod D.P. , Swash M.
Neurology68:962-962(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH1 LYS-1883
81.

"New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7."
Darin N. , Tajsharghi H. , Oestman-Smith I. , Gilljam T. , Oldfors A.
Neurology68:2041-2042(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MPD1 MET-441
82.

"MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy."
Pegoraro E. , Gavassini B.F. , Borsato C. , Melacini P. , Vianello A. , Stramare R. , Cenacchi G. , Angelini C.
Neuromuscul. Disord.17:321-329(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MYOMS TRP-1845;VARIANT SPMM TRP-1845
83.

"Shared genetic causes of cardiac hypertrophy in children and adults."
Morita H. , Rehm H.L. , Menesses A. , McDonough B. , Roberts A.E. , Kucherlapati R. , Towbin J.A. , Seidman J.G. , Seidman C.E.
N. Engl. J. Med.358:1899-1908(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH1 ASN-146; MET-606; HIS-663; GLN-719; MET-763; CYS-787; VAL-908; LYS-924 AND MET-1414
84.

"Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy."
Millat G. , Bouvagnet P. , Chevalier P. , Sebbag L. , Dulac A. , Dauphin C. , Jouk P.S. , Delrue M.A. , Thambo J.B. , Le Metayer P. , Seronde M.F. , Faivre L. , Eicher J.C. , Rousson R.
Eur. J. Med. Genet.54:E570-E575(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMD1S 1101-GLY--LEU-1104 DEL; ALA-1044; GLU-1263 AND VAL-1297

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