Inherited Peripheral Neuropathies Mutation Database

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Reference

Title The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
Authors Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tüyüz B, Landrieu P, Hentati F, Koenig M
Reference Nat Genet 26: 370-374, 2000 (PubMed ID: 11062483 )
GAN: ([Val7fs]+[Val7fs]) ([Arg15Ser]+[Arg15Ser]) ([Ser52Gly]+[Cys393X]) ([Ser79Leu]+[?]) ([Val82Phe]+[?]) ([Arg138His]+[Arg138His]) (Arg269Gln) ([Arg293X]+[Cys570Tyr]) ([Leu309Arg]+[Leu309Arg]) (-) ([Trp401X]+[Glu486Lys]) (Tyr431Tyr) ([Gln483X]+[Gln483X]) ([Glu486Lys]+[Glu486Lys]) ([Arg545Cys]+[Arg545Cys])
Mutations

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