Inherited Peripheral Neuropathies Mutation Database

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Reference

Title Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.
Authors Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, De Jonghe P, Weis J, Krüttgen A, Rudnik-Schöneborn S, Bergmann C, Suter U et al.
Reference Am J Hum Genet 81: 158-164, 2007 (PubMed ID: 17564972 )
FGD4: ([Arg224X]+[Arg224X]) ([Met298Arg]+[Met298Arg]/[Met298fs]+[Met298fs]) ([Glu543fs]+[Glu543fs]) ([Gly586X]+[Gly586X])
Mutations

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