✦ LIBER ✦

Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot–Marie–Tooth disease

✍ Scribed by Charles K Abrams; Seunghoon Oh; Yi Ri; Thaddeus A Bargiello

Book ID: 117330953
Publisher: Elsevier Science
Year: 2000
Tongue: English
Weight: 276 KB
Volume: 32
Category: Article
ISSN: 0165-0173
DOI: 10.1016/s0165-0173(99)00082-x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel mutations in the connexin 32 gene

Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease

✍ Charles C. Tan; Peter J. Ainsworth; Angelika F. Hahn; Patrick M. MacLeod 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 480 KB 👁 2 views

by R d G. Worton Charcot-Marie tooth disease, a pathologically and genetically heterogeneous group of disorders that causes a progressive neuropathy, is characterized by weakness and atrophy, primarily in peroneal and distal leg muscles. It is defined patholog-Mutation leads to 10s:. of this Mae 111

Screening for connexin 32 mutations in C

Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance

✍ K. Silander; Päivi Meretoja; Helena Pihko; Vesa Juvonen; Jouni Issakainen; Pertt 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 71 KB

X-linked dominant Charcot-Marie-Tooth di

X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans

✍ Y Kim; K-G Choi; KD Park; KS Lee; KW Chung; B-O Choi 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 722 KB

X-linked dominant Charcot-Marie-Tooth ne

X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene

✍ Catherine Ressot; Philippe Latour; Françoise Blanquet-Grossard; Franck Sturtz; S 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 55 KB

X-Linked Charcot-Marie-Tooth disease cau

X-Linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene

✍ W. Ma; M. Farrukh Nizam; R.P. Grewal 📂 Article 📅 2002 🏛 Springer Milan 🌐 English ⚖ 34 KB

New point mutations and deletions of the

New point mutations and deletions of the connexin 32 gene in x-linked charcot-marie-tooth neuropathy

✍ V. Ionasescu; Ch Searby; R. Ionasescu; W. Meschino 📂 Article 📅 1995 🏛 Elsevier Science 🌐 English ⚖ 239 KB