Inherited Peripheral Neuropathies Mutation Database

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Reference

Title Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
Authors Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schoneborn S, Zerres K, Hubner C
Reference Nat Genet 29: 75-77, 2001 (PubMed ID: 11528396 )
IGHMBP2: (-) ([Gln41X]+[Val225fs]) (Tyr60Tyr) ([His213Arg]+[His213Arg]) ([Leu236X]+[Leu236X]) ([Glu514Lys]+[Glu514Lys]) ([Val580Ile]+[Val580Ile]) ([5'-splice site]+[5'-splice site]) ([Thr879Lys]+[Thr879Lys]) (Thr879Lys) (-)
Mutations

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