Inherited Peripheral Neuropathies Mutation Database

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Reference

Title Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
Authors Silander K, Meretoja P, Juvonen V, Ignatius J, Pihko H, Saarinen A, Wallden T, Herrgard E, Aula P, Savontaus ML
Reference Hum Mutat 12: 59-69, 1998 (PubMed ID: 9633821 )
PMP22: (Phe84del) MPZ (P0): (Ser78Leu) (Tyr82Cys) GJB1 (Cx32): ([Arg22Gln;Val63Ile]) (Pro58Arg) (Pro172Leu) (Asn175Asp) (Leu204Phe)
Mutations

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