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A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness

โœ Scribed by In Soo Joo; Chang-Seok Ki; Sung Yeol Joo; Kyoon Huh; Jong-Won Kim


Book ID
116792174
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
198 KB
Volume
14
Category
Article
ISSN
0960-8966

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Charcot-Marie-Tooth disease type 1A: mor
โœ A. A. W. M. Gabreรซls-Festen; P. A. Bolhuis; J. E. Hoogendijk; L. J. Valentijn; E ๐Ÿ“‚ Article ๐Ÿ“… 1995 ๐Ÿ› Springer-Verlag ๐ŸŒ English โš– 949 KB

Charcot-Marie-Tooth disease type 1A (CMT1A) or hereditary motor and sensory neuropathy type Ia (HMSN type Ia) is an autosomal dominant demyelinating polyneuropathy, which may result from duplications as large as 1.5 Mb on chromosome 17p 11.2-p12 encompassing the gene for the peripheral myelin protei