Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)

McKie, AB and McHale, JC and Keen, TJ and Tarttelin, EE and Goliath, R and van Lith-Verhoeven, JJ and Greenberg, J and Ramesar, RS and Hoyng, CB and Cremers, FP and Mackey, DA and Bhattacharya, SS and Bird, AC and Markham, AF and Inglehearn, CF, Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13), Human Molecular Genetics, 10, (15) pp. 1555-1562. ISSN 0964-6906 (2001) [Refereed Article]

DOI: doi:10.1093/hmg/10.15.1555

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