Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond
Mutations in pre-mRNA processing factors (PRPF3, 4, 6, 8, 31, SNRNP200, and RP9) have been linked to 15–20% of autosomal dominant RP cases.
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Mar 21, 2020
Approaches to Characterize novel pathogenic missense Variants in PRPF31
RP, classified as a rare disease, is the most common cause of inherited blindness worldwide, affecting 1:3500, but extremely heterogeneous.
Nov 25, 2016
Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa
Zilin Zhong , Min Yan , Wan Sun , Zehua Wu , Liyun Han , Zheng Zhou , Fang Zheng , Jianjun Chen  | Scientific Reports | 6 | 37840 | 25...
Mar 9, 2007
Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa
Identification of RNA transcripts associated with PRPF31-containing splicing complexes using an immunoprecipitation-coupled microarray . . .
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