Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Reference

Title Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.
Authors Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, Rao CV, Tournev I, Gondim FA, D'Hooghe M, Van Gerwen V,Callaerts P, Van Den Bosch L, Timmermans JP, Robberecht W, et al.
Reference Nature Genet 38: 197-202, 2006 (PubMed ID: 16429158 )
YARS: (Gly41Arg) (Val153_Val156del) (Glu196Lys)
Mutations

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