Inherited Peripheral Neuropathies Mutation Database

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Reference

Title Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
Authors Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SC, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman
Reference Brain 126: 590-597, 2003 (PubMed ID: 12566280 )
NEFL: ([Glu7Lys]+[Pro8Arg]) (Pro8Gln) (Pro8Arg) (Pro8Leu) (Ser40Ser) (Leu64Leu) (Glu90Lys) (Asn97Ser) (Gln141Gln) (Leu223Leu) (Tyr240Tyr) (Ser404Ser) (Asp468Asn) (Ala486Ala) (Glu527del)
Mutations

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