VWF ELISA Kit for Human(Homo sapiens) | EIAab.comVWF ELISA Kit for Human(Homo sapiens)

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VWF (Gene name),

von Willebrand factor (Protein name ), VWF_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

VWF(F8VWF);

Protein name:

von Willebrand factor(vWF);

Alternative:

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Multimeric. Interacts with F8.

Function:

Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma.

Subcellular Location:

Secreted Secreted extracellular space extracellular matrix Localized to storage granules.

Protein Attributes:

Sequence length:

2813

Sequence:

50:

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2600:

2650:

2700:

2750:

2800:

2813:

AMECKCSPRK | CSK

3D Structure:

N/A

Predicted Eptitope:

Please Sign in.

Vaild Sequence:

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Related Databases

SMR:

P04275

Pfam:

PF08742

STRING:

9606.ENSP00000261405

UniGene:

Hs.440848

MIM:

193400

KEGG:

hsa:7450

String:

P04275

Uniprot:

P04275

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ELISA Kit for Human vWF

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E0833h

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96T

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ELISA Kit for Human vWF

Cat.:

E0833r

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96T

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ELISA Kit for Human vWF

Cat.:

E0833m

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96T

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ELISA Kit for Human vWF

Cat.:

E0833p

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96T

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ELISA Kit for Human vWF

Cat.:

E0833d

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96T

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ELISA Kit for Human vWF

Cat.:

E0833b

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96T

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CLIA Kit for Human vWF

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CLIA Kit for Human vWF

Cat.:

U0833r

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96T

CLIA Kit for Human vWF

Cat.:

U0833d

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96T

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CLIA Kit for Human vWF

Cat.:

U0833p

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Looking for manual.

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96T

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CLIA Kit for Human vWF

Cat.:

U0833m

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96T

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CLIA Kit for Human vWF

Cat.:

U0833h

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96T

Polyclonal Antibody for Human vWF

Cat.:

P0833Rb-m

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40ug/0.2ml

Polyclonal Antibody for Human vWF

Cat.:

P0833Rb-r

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40ug/0.2ml

Polyclonal Antibody for Human vWF

Cat.:

P0833Rb-h

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Packing:

40ug/0.2ml

Polyclonal Antibody for Human vWF

Monoclonal Antibody for Human vWF

Protein for Human vWF

R&D Technical Data

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

Precision

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

Recovery

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Linearity

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References

1.

"Nucleotide sequence of pre-pro-von Willebrand factor cDNA."
Bonthron D. , Orr E.C. , Mitsock L.M. , Ginsburg D. , Handin R.I. , Orkin S.H.
Nucleic Acids Res.14:7125-7128(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] (ISOFORM 1);VARIANTS ARG-852; ALA-1381 AND HIS-1472
2.

"Structure of the gene for human von Willebrand factor."
Mancuso D.J. , Tuley E.A. , Westfield L.A. , Worrall N.K. , Shelton-Inloes B.B. , Sorace J.M. , Alevy Y.G. , Sadler J.E.
J. Biol. Chem.264:19514-19527(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];VARIANTS ILE-471; ARG-852; ALA-1381 AND HIS-1472
3.

"The finished DNA sequence of human chromosome 12."
Scherer S.E. , Muzny D.M. , Buhay C.J. , Chen R. , Cree A. , Ding Y. , Dugan-Rocha S. , Gill R. , Gunaratne P. , Harris R.A. , Hawes A.C. , Hernandez J. , Hodgson A.V. , Hume J. , Jackson A. , Khan Z.M. , Kovar-Smith C. , Lewis L.R. , more...
Nature440:346-351(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: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
4.

Mural R.J. , Istrail S. , Sutton 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]
5.

"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] (ISOFORM 2)
tissue: Lung.
6.

"Full-length von Willebrand factor (vWF) cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit."
Verweij C.L. , Diergaarde P.J. , Hart M. , Pannekoek H.
EMBO J.5:1839-1847(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 1-1400 (ISOFORM 1);VARIANTS ARG-484; ARG-852 AND ALA-1381
7.

Verweij C.L. , Diergaarde P.J. , Hart M. , Pannekoek H.
EMBO J.5:3074-3074(1986)

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

"The human von Willebrand factor gene. Structure of the 5' region."
Bonthron D. , Orkin S.H.
Eur. J. Biochem.171:51-57(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 [GENOMIC DNA] OF 1-178
9.

"Evolution of human von Willebrand factor: cDNA sequence polymorphisms, repeated domains, and relationship to von Willebrand antigen II."
Shelton-Inloes B.B. , Broze G.J. Jr. , Miletich J.P. , Sadler J.E.
Biochem. Biophys. Res. Commun.144:657-665(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 1-120 (ISOFORM 1);PROTEIN SEQUENCE OF 23-56
tissue: Umbilical vein endothelial cell.
10.

"Amino acid sequence of human von Willebrand factor."
Titani K. , Kumar S. , Takio K. , Ericsson L.H. , Wade R.D. , Ashida K. , Walsh K.A. , Chopek M.W. , Sadler J.E. , Fujikawa K.
Biochemistry25:3171-3184(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: PROTEIN SEQUENCE OF 764-2813;VARIANTS ARG-852 AND ALA-1381
11.

"Cloning and characterization of two cDNAs coding for human von Willebrand factor."
Sadler J.E. , Shelton-Inloes B.B. , Sorace J.M. , Harlan J.M. , Titani K. , Davie E.W.
Proc. Natl. Acad. Sci. U.S.A.82:6394-6398(1985) [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 744-873 AND 1289-2813 (ISOFORM 1);VARIANTS ALA-789; ARG-852 AND ALA-1381
12.

"Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides."
Gevaert K. , Goethals M. , Martens L. , Van Damme J. , Staes A. , Thomas G.R. , Vandekerckhove J.
Nat. Biotechnol.21:566-569(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: PROTEIN SEQUENCE OF 764-782
tissue: Platelet.
13.

"cDNA sequences for human von Willebrand factor reveal five types of repeated domains and five possible protein sequence polymorphisms."
Shelton-Inloes B.B. , Titani K. , Sadler J.E.
Biochemistry25:3164-3171(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 781-1424 (ISOFORM 1);VARIANTS ARG-852 AND ALA-1381
14.

"Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction."
Mancuso D.J. , Tuley E.A. , Westfield L.A. , Lester-Mancuso T.L. , Le Beau M.M. , Sorace J.M. , Sadler J.E.
Biochemistry30:253-269(1991) [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 990-1947;VARIANTS ALA-1381 AND HIS-1472
15.

"Activation of human platelets by the membrane-expressed A1 domain of von Willebrand factor."
Schulte am Esch J. II , Cruz M.A. , Siegel J.B. , Anrather J. , Robson S.C.
Blood90:4425-4437(1997) [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 1236-1476 (ISOFORM 1);VARIANT ALA-1381
16.

"Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization."
Ginsburg D. , Handin R.I. , Bonthron D.T. , Donlon T.A. , Bruns G.A.P. , Latt S.A. , Orkin S.H.
Science228:1401-1406(1985) [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 2621-2813 (ISOFORM 1)
17.

"Molecular cloning of cDNA for human von Willebrand factor: authentication by a new method."
Lynch D.C. , Zimmerman T.S. , Collins C.J. , Brown M. , Morin M.J. , Ling E.H. , Livingston D.M.
Cell41:49-56(1985) [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 2731-2813 (ISOFORM 1)
18.

Lynch D.C.
Submitted (1991-07) 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
19.

"Construction of cDNA coding for human von Willebrand factor using antibody probes for colony-screening and mapping of the chromosomal gene."
Verweij C.L. , de Vries C.J.M. , Distel B. , van Zonneveld A.-J. , Geurts van Kessel A. , van Mourik J.A. , Pannekoek H.
Nucleic Acids Res.13:4699-4717(1985) [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 2731-2813 (ISOFORM 1)
20.

"Molecular cloning of the human gene for von Willebrand factor and identification of the transcription initiation site."
Collins C.J. , Underdahl J.P. , Levene R.B. , Ravera C.P. , Morin M.J. , Dombalagian M.J. , Ricca G. , Livingston D.M. , Lynch D.C.
Proc. Natl. Acad. Sci. U.S.A.84:4393-4397(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 [GENOMIC DNA] OF 2731-2813
21.

"von Willebrand factor storage and multimerization: 2 independent intracellular processes."
Haberichter S.L. , Fahs S.A. , Montgomery R.R.
Blood96:1808-1815(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: SUBUNIT;SUBCELLULAR LOCATION
22.

"Identification of disulfide-bridged substructures within human von Willebrand factor."
Marti T. , Rosselet S.J. , Titani K. , Walsh K.A.
Biochemistry26:8099-8109(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: DISULFIDE BONDS
23.

"Primary structure of a new tetraantennary glycan of the N-acetyllactosaminic type isolated from human factor VIII/von Willebrand factor."
Samor B. , Michalski J.C. , Debray H. , Mazurier C. , Goudemand M. , van Halbeek H. , Vliegenthart J.F.G. , Montreuil J.
Eur. J. Biochem.158:295-298(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: STRUCTURE OF CARBOHYDRATES
24.

"The acidic region of the factor VIII light chain and the C2 domain together form the high affinity binding site for von Willebrand factor."
Saenko E.L. , Scandella D.
J. Biol. Chem.272:18007-18014(1997) [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 F8
25.

"Screening for N-glycosylated proteins by liquid chromatography mass spectrometry."
Bunkenborg J. , Pilch B.J. , Podtelejnikov A.V. , Wisniewski J.R.
Proteomics4:454-465(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: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-1515
tissue: Plasma.
26.

"Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry."
Denis N.J. , Vasilescu J. , Lambert J.-P. , Smith J.C. , Figeys D.
Proteomics7:868-874(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: UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-1720
tissue: Mammary cancer.
27.

"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R. , Jiang X. , Sun D. , Han G. , Wang F. , Ye M. , Wang L. , Zou H.
J. Proteome Res.8:651-661(2009) [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: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-2546
tissue: Liver.
28.

"A strategy for precise and large scale identification of core fucosylated glycoproteins."
Jia W. , Lu Z. , Fu Y. , Wang H.P. , Wang L.H. , Chi H. , Yuan Z.F. , Zheng Z.B. , Song L.N. , Han H.H. , Liang Y.M. , Wang J.L. , Cai Y. , Zhang Y.K. , Deng Y.L. , Ying W.T. , He S.M. , Qian X.H.
Mol. Cell. Proteomics8:913-923(2009) [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: GLYCOSYLATION AT ASN-1515
29.

"Crystal structure of the von Willebrand factor A1 domain and implications for the binding of platelet glycoprotein Ib."
Emsley J. , Cruz M. , Handin R. , Liddington R.
J. Biol. Chem.273:10396-10401(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: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 1261-1468
30.

"Crystal structure of the A3 domain of human von Willebrand factor: implications for collagen binding."
Huizinga E.G. , Martijn van der Plas R. , Kroon J. , Sixma J.J. , Gros P.
Structure5:1147-1156(1997) [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: X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF 1685-1873
31.

"The von Willebrand factor A3 domain does not contain a metal ion-dependent adhesion site motif."
Bienkowska J. , Cruz M. , Atiemo A. , Handin R. , Liddington R.
J. Biol. Chem.272:25162-25167(1997) [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: X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 1686-1872
32.

"von Willebrand factor, platelets and endothelial cell interactions."
Ruggeri Z.M.
J. Thromb. Haemost.1:1335-1342(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: REVIEW
33.

"Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA."
Ginsburg D. , Konkle B.A. , Gill J.C. , Montgomery R.R. , Bockenstedt P.L. , Johnson T.A. , Yang A.Y.
Proc. Natl. Acad. Sci. U.S.A.86:3723-3727(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: VARIANTS VWD2 TRP-1597 AND ASP-1607
34.

"Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr)."
Iannuzzi M.C. , Hidaka N. , Boehnke M. , Bruck M.E. , Hanna W.T. , Collins F.S. , Ginsburg D.
Am. J. Hum. Genet.48:757-763(1991) [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 VWD2 THR-1628
35.

"Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease."
Gaucher C. , Mercier B. , Jorieux S. , Oufkir D. , Mazurier C.
Br. J. Haematol.78:506-514(1991) [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 VWD2 TRP-816 AND GLN-854
36.

"An Arg545-->Cys545 substitution mutation of the von Willebrand factor in type IIB von Willebrand's disease."
Donner M. , Andersson A.-M. , Kristoffersson A.-C. , Nilsson I.M. , Dahlback B. , Holmberg L.
Eur. J. Haematol.47:342-345(1991) [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 VWD2 CYS-1308
37.

"Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences."
Randi A.M. , Rabinowitz I. , Mancuso D.J. , Mannucci P.M. , Sadler J.E.
J. Clin. Invest.87:1220-1226(1991) [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 VWD2 TRP-1306; CYS-1308 AND PRO-1613
38.

"The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain."
Cooney K.A. , Nichols W.C. , Bruck M.E. , Bahou W.F. , Shapiro A.D. , Bowie E.J.W. , Gralnick H.R. , Ginsburg D.
J. Clin. Invest.87:1227-1233(1991) [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 VWD2 TRP-1306; CYS-1308; MET-1316 AND GLN-1341;VARIANT HIS-1399
39.

"Identification of a point mutation in type IIB von Willebrand disease illustrating the regulation of von Willebrand factor affinity for the platelet membrane glycoprotein Ib-IX receptor."
Ware J. , Dent J.A. , Azuma H. , Sugimoto M. , Kyrle P.A. , Yoshioka A. , Ruggeri Z.M.
Proc. Natl. Acad. Sci. U.S.A.88:2946-2950(1991) [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 VWD2 CYS-1313
40.

"Expression of von Willebrand factor 'Normandy': an autosomal mutation that mimics hemophilia A."
Tuley E.A. , Gaucher C. , Jorieux S. , Worrall N.K. , Sadler J.E. , Mazurier C.
Proc. Natl. Acad. Sci. U.S.A.88:6377-6381(1991) [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 VWD2 MET-791
41.

"Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease."
Murray E.W. , Giles A.R. , Lillicrap D.
Am. J. Hum. Genet.50:199-207(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 VWD2 MET-1316
42.

"Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB."
Pietu G. , Ribba A.S. , de Paillette L. , Cherel G. , Lavergne J.-M. , Bahnak B.R. , Meyer D.
Blood Coagul. Fibrinolysis3:415-421(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 VWD2 TRP-1306; MET-1316; THR-1628 AND SER-1648
43.

"Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden."
Donner M. , Kristoffersson A.-C. , Lenk H. , Scheibel E. , Dahlback B. , Nilsson I.M. , Holmberg L.
Br. J. Haematol.82:58-65(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 VWD2 TRP-1306; CYS-1308; LEU-1314 AND LEU-1318
44.

"Defects in type IIA von Willebrand disease: a cysteine 509 to arginine substitution in the mature von Willebrand factor disrupts a disulphide loop involved in the interaction with platelet glycoprotein Ib-IX."
Lavergne J.-M. , de Paillette L. , Bahnak B.R. , Ribba A.-S. , Fressinaud E. , Meyer D. , Pietu G.
Br. J. Haematol.82:66-72(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 VWD2 ARG-1272
45.

"Characterization of recombinant von Willebrand factor corresponding to mutations in type IIA and type IIB von Willebrand disease."
Ribba A.S. , Voorberg J. , Meyer D. , Pannekoek H. , Pietu G.
J. Biol. Chem.267:23209-23215(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 VWD2 LYS-1638
46.

"von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib."
Rabinowitz I. , Tuley E.A. , Mancuso D.J. , Randi A.M. , Firkin B.G. , Howard M.A. , Sadler J.E.
Proc. Natl. Acad. Sci. U.S.A.89:9846-9849(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 VWD2 SER-1324
47.

"Identification of three candidate mutations causing type IIA von Willebrand disease using a rapid, nonradioactive, allele-specific hybridization method."
Inbal A. , Englender T. , Kornbrot N. , Randi A.M. , Castaman G. , Mannucci P.M. , Sadler J.E.
Blood82:830-836(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 VWD2 GLN-1597; ARG-1609 AND GLU-1665
48.

"Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease."
Gaucher C. , Hanss M. , Dechavanne M. , Mazurier C.
Br. J. Haematol.83:94-99(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 VWD2 CYS-1514
49.

"Two new candidate mutations in type IIA von Willebrand's disease (Arg834-->Gly, Gly846-->Arg) and one polymorphism (Tyr821-->Cys) in the A2 region of the von Willebrand factor."
Donner M. , Kristoffersson A.C. , Berntorp E. , Scheibel E. , Thorsen S. , Dahlback B. , Nilsson I.M. , Holmberg L.
Eur. J. Haematol.51:38-44(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 VWD2 GLY-1597 AND ARG-1609;VARIANT CYS-1584
50.

"Type IIB mutation His-505-->Asp implicates a new segment in the control of von Willebrand factor binding to platelet glycoprotein Ib."
Rabinowitz I. , Randi A.M. , Shindler K.S. , Tuley E.A. , Rustagi P.K. , Sadler J.E.
J. Biol. Chem.268:20497-20501(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 VWD2 ASP-1268
51.

"von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure."
Holmberg L. , Dent J.A. , Schneppenheim R. , Budde U. , Ware J. , Ruggeri Z.M.
J. Clin. Invest.91:2169-2177(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 VWD2 LEU-1266
52.

"Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease."
Hilbert L. , Gaucher C. , de Romeuf C. , Horellou M.H. , Vink T. , Mazurier C.
Blood83:1542-1550(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 VWD2 VAL-1460
53.

"Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations."
Lyons S.E. , Cooney K.A. , Bockenstedt P. , Ginsburg D.
Blood83:1551-1557(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 VWD2 PRO-1540 AND THR-1628
54.

"Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin."
Zhang Z.P. , Blombaeck M. , Egberg N. , Falk G. , Anvret M.
Genomics21:188-193(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 VWD3 TYR-2739
55.

"Genetic heterogeneity of severe von Willebrand disease type III in the German population."
Schneppenheim R. , Krey S. , Bergmann F. , Bock D. , Budde U. , Lange M. , Linde R. , Mittler U. , Meili E. , Mertes G. , Olek K. , Plendl H. , Simeoni E.
Hum. Genet.94:640-652(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 VWD3 CYS-377
56.

"Investigation of type IIC von Willebrand disease."
Uno H. , Nishida N. , Ishizaki J. , Suzuki M. , Nishikubo T. , Miyata S. , Takahashi Y. , Yoshioka A. , Tsuda K.
Int. J. Hematol.59:219-225(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 VWD2 SER-528
57.

"Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF."
Hilbert L. , Gaucher C. , Mazurier C.
Blood86:1010-1018(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 VWD2 CYS-1374 AND HIS-1374
58.

"A novel candidate mutation (Arg611-->His) in type I 'platelet discordant' von Willebrand's disease with desmopressin-induced thrombocytopenia."
Castaman G. , Eikenboom C.J.C. , Rodeghiero F. , Briet K. , Reitsma P.H.
Br. J. Haematol.89:656-658(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 VWD2 HIS-1374
59.

"Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor."
Hilbert L. , Gaucher C. , Mazurier C.
Br. J. Haematol.91:983-990(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 VWD2 VAL-1461
60.

"Identification of a candidate missense mutation in a family with von Willebrand disease type IIC."
Schneppenheim R. , Thomas K.B. , Krey S. , Budde U. , Jessat U. , Sutor A.H. , Zeiger B.
Hum. Genet.95:681-686(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 VWD2 ARG-550
61.

"Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease."
Schneppenheim R. , Brassard J. , Krey S. , Budde U. , Kunicki T.J. , Holmberg L. , Ware J. , Ruggeri Z.M.
Proc. Natl. Acad. Sci. U.S.A.93:3581-3586(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 VWD2 ARG-2773
62.

"A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion."
Allen S. , Abuzenadah A.M. , Hinks J. , Blagg J.L. , Gursel T. , Ingerslev J. , Goodeve A.C. , Peake I.R. , Daly M.E.
Blood96:560-568(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 VWD1 TRP-273;VARIANT VWD3 TRP-273
63.

"Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins."
Bodo I. , Katsumi A. , Tuley E.A. , Eikenboom J.C. , Dong Z. , Sadler J.E.
Blood98:2973-2979(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 VWD1 ARG-1149;MUTAGENESIS OF CYS-1149 AND CYS-1169
64.

"Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A."
Mazurier C. , Parquet-Gernez A. , Gaucher C. , Lavergne J.-M. , Goudemand J.
Br. J. Haematol.119:390-392(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: VARIANT VWD2 ARG-1060
65.

"The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: co-segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype."
Bowen D.J. , Collins P.W. , Lester W. , Cumming A.M. , Keeney S. , Grundy P. , Enayat S.M. , Bolton-Maggs P.H. , Keeling D.M. , Khair K. , Tait R.C. , Wilde J.T. , Pasi K.J. , Hill F.G.
Br. J. Haematol.128:830-836(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: VARIANT CYS-1584
66.

"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T. , Jones S. , Wood L.D. , Parsons D.W. , Lin J. , Barber T.D. , Mandelker D. , Leary R.J. , Ptak J. , Silliman N. , Szabo S. , Buckhaults P. , Farrell C. , Meeh P. , Markowitz S.D. , Willis J. , Dawson D. , Willson J.K.V. , more...
Science314:268-274(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 [LARGE SCALE ANALYSIS] CYS-1570
67.

"C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance."
Woods A.I. , Sanchez-Luceros A. , Kempfer A.C. , Powazniak Y. , Calderazzo Pereyra J.C. , Blanco A.N. , Meschengieser S.S. , Lazzari M.A.
Haemophilia18:112-116(2012) [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 VWD2 PHE-1272

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