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Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

✍ Scribed by Hayasaka, Kiyoshi; Himoro, Masato; Sato, Wataru; Takada, Goro; Uyemura, Keiichi; Shimizu, Nobuyoshi; Bird, Thomas D.; Conneally, P. Michael; Chance, Phillip F.


Book ID
109916891
Publisher
Nature Publishing Group
Year
1993
Tongue
English
Weight
386 KB
Volume
5
Category
Article
ISSN
1061-4036

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Mutations in the myelin protein zero gen
✍ Philippe Latour; Françoise Blanquet; Eva Nelis; Christine Bonnebouche; Fraņoise 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 437 KB

Communicated by Jean-Louis Mandel Charcot-Marie-Tooth type 1 (CMT1) disease is an autosomal dominant neuropathy of the peripheral nerve. The majority of CMT 1 cases are due to a duplication of an 1.5-Mb DNA fragment on chromosome 17pl1.2 (CMT la). Micromutations were found in the gene for peripheral