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Article

Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond

28 Jul 2021

Abstract excerpt

Retinitis pigmentosa (RP) is the most common inherited retinal disease characterized by progressive degeneration of photoreceptors and/or retinal pigment epithelium that eventually results in blindness. Mutations in pre-mRNA processing factors ( PRPF3, 4, 6, 8, 31, SNRNP200, and RP9 ) have been linked to 15–20% of autosomal dominant RP (adRP) cases. Current evidence indicates that PRPF mutations cause retinal...

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PMID: 34395430
DOI: 10.3389/fcell.2021.700276

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