Inherited Peripheral Neuropathies Mutation Database

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Title Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.
Authors Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Mégarbané A, Haase G, Lévy N
Reference Am J Hum Genet 81: 1-16, 2007 (PubMed ID: 17564959 )
FGD4: ([Met298Thr]+[Met298Thr]) ([Met298Arg]+[Met298Arg]/[Met298fs]+[Met298fs])

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