Inherited Peripheral Neuropathies Mutation Database

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Title Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
Authors Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF
Reference Am J Hum Genet 68: 598-605, 2001 (PubMed ID: 11179008 )
IKBKAP: ([Arg696Pro]+[5'-splice site (skipping ex20)]) ([5'-splice site]+[5'-splice site])

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