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Human Nerve Pathology Caused by Different Mutational Mechanisms of the PMP22 Gene

✍ Scribed by ANNEKE GABREËLS-FESTEN; RUDI VAN DE WETERING


Book ID
111395464
Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
750 KB
Volume
883
Category
Article
ISSN
0890-6564

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REPORT of a novel mutation in the PMP22
✍ Burkhard Gess; Astrid Jeibmann; Anja Schirmacher; Ilka Kleffner; Matthias Schill 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 751 KB

## Abstract Introduction: Point mutations in the peripheral myelin protein 22 (__PMP22__) gene rarely cause the hereditary neuropathies Charcot–Marie–Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), both of which show a demyelinating phenotype. Meth