Inherited Peripheral Neuropathies Mutation Database

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Title A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.
Authors Guilbot A, Williams A, Ravise N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Megarbane A, Claustres M
Reference Hum Mol Genet 10: 415-421, 2001 (PubMed ID: 11157804 )
PRX: ([Arg196X]+[Arg196X])

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