A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa

A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa

At least six different proteins of the spliceosome, including PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, and SNRNP200, are mutated in autosomal dominant retinitis pigmentosa (adRP). These proteins have recently been shown to localize to the base of the connecting cilium of the retinal photoreceptor cells,...

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Bibliographic Details
Main Authors: Gabrielle Wheway, Liliya Nazlamova, Nervine Meshad, Samantha Hunt, Nicola Jackson, Amanda Churchill
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-03-01
Series:Frontiers in Genetics
Subjects:
genetic disease
modeling
pathogenicity
missense
pre-mRNA splicing factor
retinitis pigmentosa
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00248/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2019.00248/full

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