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Connexin32 and X-linked Charcot–Marie–Tooth Disease

✍ Scribed by Bone, Linda Jo (author);Deschênes, Suzanne M. (author);Balice-Gordon, Rita J. (author);Fischbeck, Kenneth H. (author);Scherer, Steven S. (author)


Book ID
115641403
Publisher
Academic Press Inc.
Year
1997
Tongue
English
Weight
290 KB
Volume
4
Category
Article
ISSN
0969-9961

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X-LINKED CHARCOT-MARIE-TOOTH DISEASE AND
✍ Victor V. Ionasescu 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 166 KB

We studied 29 families with X-linked dominant CMT (CMTX1) neuropathy. Twenty-five families showed mutations in the coding region of the connexin32 (Cx32) gene. The mutations included five nonsense mutations, 17 missense mutations, two medium size deletions and one insertion. Most missense mutations