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45. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. 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 Am J Hum Genet; 2001 Mar; 68(3):598-605. PubMed ID: 11179008 [TBL] [Abstract][Full Text] [Related]
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