Inherited Peripheral Neuropathies Mutation Database

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Reference

Title Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
Authors Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Martin J-J, Vasserman N, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K et al.
Reference Nat Genet : online pub, 2004 (PubMed ID: 15122254 )
HSPB1: (Arg127Trp) (Ser135Phe) (Arg136Trp) (Thr151Ile) (Pro182Leu)
Mutations

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