Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Reference

Title Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.
Authors Irobi J, Van Impe K, Seeman P, Jordanova A, Dierick I, Verpoorten N, Michalik A, De Vriendt E, Jacobs A, Van Gerwen V, Vennekens K, Mazanec R, Tournev I, Hilton-Jones D, Talbot K, Kremensky I, Van Den Bosch L, Robberecht W, Vandekerckhove J et al.
Reference Nat Genet : online pub, 2004 (PubMed ID: 15122253 )
HSPB8: (Lys141Glu) (Lys141Asn)
Mutations

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