Inherited Peripheral Neuropathies Mutation Database

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Reference

Title Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
Authors Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH
Reference Nature 448: 68-72, 2007 (PubMed ID: 17572665 )
FIG4: ([Ile41Thr]+[Phe98fs]) ([Ile41Thr]+[Arg183X]) ([Ile41Thr]+[Gly253fs]) ([Ile41Thr]+[Asp348fs])
Mutations

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