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NEFLPro22Arg mutation in Charcot-Marie-Tooth disease type 1

✍ Scribed by Ji Soo Shin; Ki Wha Chung; Sun Young Cho; Jiyoung Yun; Su Jin Hwang; Sung Hee Kang; En Min Cho; Seung-Min Kim; Byung-Ok Choi


Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
271 KB
Volume
53
Category
Article
ISSN
1435-232X

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Myelin protein zero (MPZ) gene mutations
✍ Benjamin B. Roa; Laura E. Warner; Carlos A. Garcia; Donna Russo; Robert Lovelace πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 975 KB

The myelin protein zero gene (MPZ) maps to chromosome lq22-23 and encodes the most abundant peripheral nerve myelin protein. The Po protein functions as a homophilic adhesion molecule in myelin compaction. Mutations in the MPZ gene are associated with the demyelinating peripheral neuropathies Charco