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

✍ Scribed by I. M. Khidiyatova; E. G. Bagautdinova; D. V. Galieva; N. B. Krupina; O. A. Shchagina; T. B. Tiburkova; R. V. Magzhanov; A. V. Polyakov; E. K. Khusnutdinova


Book ID
110199634
Publisher
SP MAIK Nauka/Interperiodica
Year
2008
Tongue
English
Weight
216 KB
Volume
44
Category
Article
ISSN
1022-7954

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## Communicated by Mark Paalman Charcot-Marie-Tooth disease (CMT) and related inherited peripheral neuropathies, including Dejerine-Sottas syndrome, congenital hypomyelination, and hereditary neuropathy with liability to pressure palsies (HNPP), are caused by mutations in three myelin genes: PMP22,