Pediatric Research · 2009 · 45 citations · 16 references
Life SciencesGeneticsMolecular BiologyGene ExpressionMedical GeneticsAlternative SplicingGenetic DisordersRna SplicingRna-protein InteractionsDisease-associated SplicingDisease-associated Splicing DefectsRna Splicing DefectsSpliceosome Gene MutationsSplicing Control
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Familial Dysautonomia Is Caused by Mutations of the IKAP Gene
Sylvia L. Anderson, Rocco Coli, Ira Daly et al. · The American Journal of Human Genetics · 2001 · 434 citations · Full text