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Yunis-Varon syndrome: Evidence for a lysosomal storage disease

โœ Scribed by Walch, Elisabeth ;Schmidt, Matthias ;Brenner, Rolf E. ;Emons, Dieter ;Dame, Christof ;Pontz, Bertram ;Wiestler, Ottmar D. ;Bartmann, Peter

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
226 KB
Volume
95
Category
Article
ISSN
0148-7299

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โœ Andrew J. Shirk; Susan K. Anderson; Sayed H. Hashemi; Phillip F. Chance; Craig L ๐Ÿ“‚ Article ๐Ÿ“… 2005 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 285 KB

Mutation of the SIMPLE gene (small integral membrane protein of the lysosome/late endosome) is the molecular basis of Charcot-Marie-Tooth disease type 1C (CMT1C), a demyelinating peripheral neuropathy. Although the precise function of SIMPLE is unknown, prior reports suggest it localizes to the lyso