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Article

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

Human molecular genetics - 15 Jul 2001

McKie A B, McHale J C, Keen T J, Tarttelin E E, Goliath R, van Lith-Verhoeven J J, Greenberg J, Ramesar R S, Hoyng C B, Cremers F P, Mackey D A, Bhattacharya S S, Bird A C, Markham A F, Inglehearn C F

Abstract excerpt

Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive degeneration of the peripheral retina leading to night blindness and loss of visual fields. With an incidence of approximately 1 in 4000, RP can be inherited in X-linked, autosomal dominant or autosomal recessive modes. The RP13 locus for autosomal dominant RP (adRP) was placed on chromosome 17p13.3 by linkage mapping...

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PMID: 11468273
DOI: 10.1093/hmg/10.15.1555

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