✦ LIBER ✦

Two missense mutations in connexin32 (GJB1) in a CMT family

✍ Scribed by J.C. Blake; W.K. Leong; I. Nelson; G.D. Anselmi; G.D. Perkin; M.M. Reilly

Book ID: 118434101
Publisher: Elsevier Science
Year: 2007
Tongue: English
Weight: 26 KB
Volume: 118
Category: Article
ISSN: 1388-2457
DOI: 10.1016/j.clinph.2006.07.206

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel missense mutation of the connexin3

Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant charcot-marie-tooth neuropathy

✍ Federica Schiavon; Cinzia Fracasso; Maria L. Mostacciuolo 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 273 KB 👁 2 views

Gln15 missense mutation in the connexin

Gln15 missense mutation in the connexin 32 gene in a CMTX Italian family

✍ P. Gobbi; C. Bell; P. Sorgato; P. Conigli; A. Colombo; N. Haites; A. Ferlini 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 129 KB

A missense mutation in the GJB3 gene res

A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family

✍ W. Wang; L. H. Liu; G. Chen; M. Gao; J. Zhu; F. S. Zhou; H. Cheng; H. Y. Tang; B 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 370 KB

NovelGDAP1Mutation in a Turkish Family w

NovelGDAP1Mutation in a Turkish Family with CMT2K (CMT2K with NovelGDAP1Mutation)

✍ Nilufer Sahin-Calapoglu; Meliha Tan; Mustafa Soyoz; Mustafa Calapoglu; Nurten Oz 📂 Article 📅 2009 🏛 Humana Press Inc 🌐 English ⚖ 317 KB

Mutation in connexin 32 causes charcot–m

Mutation in connexin 32 causes charcot–marie–tooth disease in a large Chinese family

✍ Fuqiang Guo; Yi Shi; Ying Lin; Xiaoqi Liu; Bin Liu; Ying Liu; Yang Yang; Fang Lu 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 475 KB

## Abstract The purpose was to study the clinical features and genetics of a large Chinese family with Charcot–Marie–Tooth (CMT) disease. A genome‐wide linkage scan using Applied Biosystems v. 2.5 411 short tandem repeat (STR) markers was performed in this family. Mutation screening was conducted o

Spectrum and frequency of mutations in t

Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan

✍ I. M. Khidiyatova; E. G. Bagautdinova; D. V. Galieva; N. B. Krupina; O. A. Shcha 📂 Article 📅 2008 🏛 SP MAIK Nauka/Interperiodica 🌐 English ⚖ 216 KB