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Mol Vis. 2006 Oct 26;12:1259-71.

Pre-mRNA splicing and retinitis pigmentosa.

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1
Department of Pediatrics, John F. Kennedy Center for Research on Human Development, Nashville, TN, USA.

Abstract

Retinitis pigmentosa (RP) is a group of genetically and clinically heterogeneous retinal diseases and a common cause of blindness. Among the 12 autosomal dominant RP (adRP) genes identified, four encode ubiquitously expressed proteins involved in pre-mRNA splicing, demonstrating the important role that pre-mRNA splicing plays in the pathogenesis of retinal degeneration. This review focuses on recent progress in identifying adRP mutations in genes encoding pre-mRNA splicing factors and the potential underlying molecular mechanisms.

PMID:
17110909
PMCID:
PMC2683577
[Indexed for MEDLINE]
Free PMC Article
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