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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書目詳細資料
發表在:Front Genet
Main Authors: Wheway, Gabrielle, Nazlamova, Liliya, Meshad, Nervine, Hunt, Samantha, Jackson, Nicola, Churchill, Amanda
格式: Artigo
語言:Inglês
出版: Frontiers Media S.A. 2019
主題:
Genetics
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6438860/
https://ncbi.nlm.nih.gov/pubmed/30967900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00248
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