PMP22 ELISA Kit for Human(Homo sapiens) | EIAab.comPMP22 ELISA Kit for Human(Homo sapiens)

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PMP22 (Gene name),

Peripheral myelin protein 22 (Protein name ), PMP22_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

PMP22(GAS3);

Protein name:

Peripheral myelin protein 22(PMP-22);

Alternative:

Growth arrest-specific protein 3(GAS-3);

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

N/A

Function:

Might be involved in growth regulation, and in myelinization in the peripheral nervous system.

Subcellular Location:

Membrane Multi-pass membrane protein

Protein Attributes:

Sequence length:

160

Sequence:

50:

100:

150:

160:

VIYVILRKRE |

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

Pfam:

PF00822

KEGG:

hsa:5376

UniGene:

Hs.372031

MIM:

118220

String:

Q01453

STRING:

9606.ENSP00000308937

Uniprot:

Q01453

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ELISA Kit for Human PMP-22

Cat.:

E12638h

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96T

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ELISA Kit for Human PMP-22

Cat.:

E12638r

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96T

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ELISA Kit for Human PMP-22

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ELISA Kit for Human PMP-22

Cat.:

E12638m

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Packing:

96T

CLIA Kit for Human PMP-22

Cat.:

U12638m

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Packing:

96T

CLIA Kit for Human PMP-22

MSDS:

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CLIA Kit for Human PMP-22

Cat.:

U12638r

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Manual:

Looking for manual.

MSDS:

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Packing:

96T

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CLIA Kit for Human PMP-22

Cat.:

U12638h

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Looking for manual.

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Packing:

96T

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Polyclonal Antibody for Human PMP-22

Cat.:

P12638Rb-h

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Packing:

40ug/0.2ml

Monoclonal Antibody for Human PMP-22

Protein for Human PMP-22

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 gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A."
Patel P.I. , Roa B.B. , Welcher A.A. , Schoener-Scott R. , Trask B. , Pentao L. , Snipes G.J. , Garcia C.A. , Francke U. , Shooter E.M. , Lupski J.R. , Suter U.
Nat. Genet.1:159-165(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: NUCLEOTIDE SEQUENCE [MRNA]
2.

"Isolation and sequence determination of cDNA encoding PMP-22 (PAS-II/SR13/Gas-3) of human peripheral myelin."
Hayasaka K. , Himoro M. , Nanao K. , Sato W. , Miura M. , Uyemura K. , Takahashi E. , Takada G.
Biochem. Biophys. Res. Commun.186:827-831(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: NUCLEOTIDE SEQUENCE [MRNA]
tissue: Spinal cord.
3.

"Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A."
Valentijn L.J. , Baas F. , Wolterman R.A. , Hoogendijk J.E. , van den Bosch N.H.A. , Zorn I. , Gabreeels-Festen A.A.W.M. , de Visser M. , Bolhuis P.A.
Nat. Genet.2:288-291(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: NUCLEOTIDE SEQUENCE [MRNA];VARIANT CMT1A PRO-16
4.

"Sequence of human GAS3/PMP22 full-length cDNA."
Edomi P. , Martinotti A. , Colombo M.P. , Schneider C.
Gene126:289-290(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]
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]
tissue: Kidney.
6.

"Isolation and mapping to 17p12-13 of the human homologous of the murine growth arrest specific Gas-3 gene."
Martinotti A. , Cariani C.T. , Melani C. , Sozzi G. , Spurr N.K. , Pierotti M.A. , Colombo M.P.
Hum. Mol. Genet.1:331-334(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: NUCLEOTIDE SEQUENCE [MRNA] OF 61-160
tissue: Fetal fibroblast.
7.

"Molecular genetics of Charcot-Marie-Tooth neuropathy."
Roa B.B. , Lupski J.R.
Adv. Hum. Genet.22:117-152(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: REVIEW ON CMT1A VARIANTS
8.

"Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease."
Patel P.I. , Lupski J.R.
Trends Genet.10:128-133(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: REVIEW ON CMT1A VARIANTS
9.

"Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies."
Nelis E. , Haites N. , van Broeckhoven C.
Hum. Mutat.13:11-28(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: REVIEW ON CMT1A AND DSS VARIANTS
10.

"Structural basis for the Trembler-J phenotype of Charcot-Marie-Tooth disease."
Sakakura M. , Hadziselimovic A. , Wang Z. , Schey K.L. , Sanders C.R.
Structure19:1160-1169(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: STRUCTURE BY NMR OF WILD TYPE AND MUTANT PRO-16;SUBCELLULAR LOCATION;TOPOLOGY
11.

"Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A."
Roa B.B. , Garcia C.A. , Pentao L. , Killian J.M. , Trask B.J. , Suter U. , Snipes G.J. , Ortiz-Lopez R. , Shooter E.M. , Patel P.I. , Lupski J.R.
Nat. Genet.5:189-194(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 DSS LYS-69 AND LEU-72;VARIANTS CMT1A CYS-79 AND MET-118
12.

"Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene."
Roa B.B. , Dyck P.J. , Marks H.G. , Chance P.F. , Lupski J.R.
Nat. Genet.5:269-273(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 DSS LYS-69 AND LEU-72
13.

"Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene."
Roa B.B. , Garcia C.A. , Suter U. , Kulpa D.A. , Wise C.A. , Mueller J. , Welcher A.A. , Snipes G.J. , Shooter E.M. , Patel P.I. , Lupski J.R.
N. Engl. J. Med.329:96-101(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 CMT1A CYS-79
14.

"Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations."
Gabreeels-Festen A.A.W.M. , Bolhuis P.A. , Hoogendijk J.E. , Valentijn L.J. , Eshuis E.J. , Gabreeels F.J.M.
Acta Neuropathol.90:645-649(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 CMT1A ARG-105
15.

"Dejerine-Sottas neuropathy is associated with a de novo PMP22 mutation."
Valentijn L.J. , Ouvrier R.A. , van den Bosch N.H.A. , Bolhuis P.A. , Baas F. , Nicholson G.A.
Hum. Mutat.5:76-80(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 DSS GLN-12
16.

"Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene."
Ionasescu V.V. , Ionasescu R. , Searby C.C. , Neahring R.
Neurology45:1766-1767(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 DSS LEU-72
17.

"A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation."
Ohnishi A. , Yoshimura T. , Kanehisa Y. , Fukushima Y.
Rinsho Shinkeigaku35:788-792(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 CMT1A ARG-93
18.

"A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease."
Navon R. , Seifried B. , Gal-On N.S. , Sadeh M.
Hum. Genet.97:685-687(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 CMT1A ARG-147
19.

"Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene."
Ionasescu V.V. , Searby C. , Greenberg S.A.
J. Med. Genet.33:1048-1049(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 DSS LEU-72
20.

"Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome."
Tyson J. , Ellis D. , Fairbrother U. , King R.H. , Muntoni F. , Jacobs J. , Malcolm S. , Harding A.E. , Thomas P.K.
Brain120:47-63(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: VARIANTS DSS TRP-72; ILE-76 AND PRO-80
21.

"Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies."
Bort S. , Nelis E. , Timmerman V. , Sevilla T. , Cruz-Martinez A. , Martinez F. , Millan J.M. , Arpa J. , Vilchez J.J. , Prieto F. , van Broeckhoven C. , Palau F.
Hum. Genet.99:746-754(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: VARIANT DSS ARG-100
22.

"Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene."
Ionasescu V.V. , Searby C.C. , Ionasescu R. , Chatkupt S. , Patel N. , Koenigsberger R.
Muscle Nerve20:97-99(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: VARIANT DSS ASP-150
23.

"PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?"
Nelis E. , Holmberg B. , Adolfsson R. , Holmgren G. , van Broeckhoven C.
Nat. Genet.15:13-14(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: VARIANT MET-118
24.

"A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A."
Marrosu M.G. , Vaccargiu S. , Marrosu G. , Vannelli A. , Cianchetti C. , Muntoni F.
Neurology48:489-493(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: VARIANT CMT1A VAL-107
25.

"Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible 'hot spot' on Ser72."
Marques W. Jr. , Thomas P.K. , Sweeney M.G. , Carr L. , Wood N.W.
Ann. Neurol.43:680-683(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 DSS LEU-72 AND GLU-100
26.

"Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease."
Ikegami T. , Ikeda H. , Aoyama M. , Matsuki T. , Imota T. , Fukuuchi Y. , Amano T. , Toyoshima I. , Ishihara Y. , Endoh H. , Hayasaka K.
Hum. Genet.102:294-298(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: VARIANT DSS CYS-150
27.

"Dejerine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene."
Bort S. , Sevilla T. , Garcia-Planells J. , Blesa D. , Paricio N. , Vilchez J.J. , Prieto F. , Palau F.
Hum. Mutat. Suppl.1:S95-S98(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: VARIANT DSS PRO-79
28.

"Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1)."
Sorour E. , Upadhyaya M.
Hum. Mutat. Suppl.1:S242-S247(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: VARIANT MET-118
29.

"Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies."
Silander K. , Meretoja P. , Juvonen V. , Ignatius J. , Pihko H. , Saarinen A. , Wallden T. , Herrgaard E. , Aula P. , Savontaus M.-L.
Hum. Mutat.12:59-68(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: VARIANT DSS PHE-84 DEL
30.

"A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts."
Sahenk Z. , Chen L. , Freimer M.
Neurology51:702-707(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: VARIANT HNPP MET-30
31.

"A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness."
Kovach M.J. , Lin J.-P. , Boyadjiev S. , Campbell K. , Mazzeo L. , Herman K. , Rimer L.A. , Frank W. , Llewellyn B. , Wang Jabs E. , Gelber D. , Kimonis V.E.
Am. J. Hum. Genet.64:1580-1593(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 CMT1E PRO-67
32.

"Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease."
Parman Y. , Plante-Bordeneuve V. , Guiochon-Mantel A. , Eraksoy M. , Said G.
Ann. Neurol.45:518-522(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 DSS TRP-157
tissue: Peripheral blood.
33.

"Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22."
Fabrizi G.M. , Cavallaro T. , Taioli F. , Orrico D. , Morbin M. , Simonati A. , Rizzuto N.
Neurology53:846-851(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 CMT1A VAL-37
34.

"Dejerine-Sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22."
Ohnishi A. , Yamamoto T. , Izawa K. , Yamamori S. , Takahashi K. , Mega H. , Jinnai K.
Acta Neuropathol.99:327-330(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 DSS ARG-149
35.

"Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1."
Numakura C. , Lin C. , Oka N. , Akiguchi I. , Hayasaka K.
Ann. Neurol.47:101-103(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 GLY-157
tissue: Peripheral blood leukocyte.
36.

"Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth type 1 and HNPP patients."
Bissar-Tadmouri N. , Parman Y. , Boutrand L. , Deymeer F. , Serdaroglu P. , Vandenberghe A. , Battaloglu E.
Clin. Genet.58:396-402(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 CMT1A LEU-72
37.

"Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients."
Mersiyanova I.V. , Ismailov S.M. , Polyakov A.V. , Dadali E.L. , Fedotov V.P. , Nelis E. , Loefgren A. , Timmerman V. , Van Broeckhoven C. , Evgrafov O.V.
Hum. Mutat.15:340-347(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 CMT1A 25-VAL-SER-26 DEL AND ARG-147;VARIANT MET-118
38.

"Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families."
Mostacciuolo M.L. , Righetti E. , Zortea M. , Bosello V. , Schiavon F. , Vallo L. , Merlini L. , Siciliano G. , Fabrizi G.M. , Rizzuto N. , Milani M. , Baratta S. , Taroni F.
Hum. Mutat.18:32-41(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 DSS LEU-72 AND ARG-109
39.

"Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion."
Korn-Lubetzki I. , Argov Z. , Raas-Rothschild A. , Wirguin I. , Steiner I.
Am. J. Med. Genet.113:275-278(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: INVOLVEMENT IN IDP
40.

"Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation."
Boerkoel C.F. , Takashima H. , Garcia C.A. , Olney R.K. , Johnson J. , Berry K. , Russo P. , Kennedy S. , Teebi A.S. , Scavina M. , Williams L.L. , Mancias P. , Butler I.J. , Krajewski K. , Shy M. , Lupski J.R.
Ann. Neurol.51:190-201(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 CMT1E ARG-28;VARIANT CMT1A/DSS PRO-71
41.

"Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations."
Numakura C. , Lin C. , Ikegami T. , Guldberg P. , Hayasaka K.
Hum. Mutat.20:392-398(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 CMT1A LEU-72
42.

"Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients."
Gabreeels-Festen A.A.W.M.
J. Anat.200:341-356(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 DSS PRO-16; ARG-80 AND ARG-105
43.

"Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1."
Huehne K. , Benes V. , Thiel C. , Kraus C. , Kress W. , Hoeltzenbein M. , Ploner C.J. , Kotzian J. , Reis A. , Rott H.D. , Rautenstrauss B.W.
Hum. Mutat.21:100-100(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 CMT1A PHE-65
44.

"Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene."
Sambuughin N. , de Bantel A. , McWilliams S. , Sivakumar K.
Neurology60:506-508(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 CMT1E 115-ALA--THR-118 DEL
45.

"HNPP due to a novel missense mutation of the PMP22 gene."
Nodera H. , Nishimura M. , Logigian E.L. , Herrmann D.N. , Kaji R.
Neurology60:1863-1864(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 HNPP THR-67
46.

"A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes."
Kleopa K.A. , Georgiou D.-M. , Nicolaou P. , Koutsou P. , Papathanasiou E. , Kyriakides T. , Christodoulou K.
Neurogenetics5:171-175(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 HNPP/CMT1A PHE-22
47.

"A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness."
Joo I.S. , Ki C.S. , Joo S.Y. , Huh K. , Kim J.W.
Neuromuscul. Disord.14:325-328(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 CMT1E ARG-23
48.

"T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy."
Shy M.E. , Scavina M.T. , Clark A. , Krajewski K.M. , Li J. , Kamholz J. , Kolodny E. , Szigeti K. , Fischer R.A. , Saifi G.M. , Scherer S.S. , Lupski J.R.
Ann. Neurol.59:358-364(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 CNT1A MET-118

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