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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Detalles Bibliográficos
Autores principales: Wheway, Gabrielle, Nazlamova, Liliya, Meshad, Nervine, Hunt, Samantha, Jackson, Nicola, Churchill, Amanda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438860/
https://www.ncbi.nlm.nih.gov/pubmed/30967900
http://dx.doi.org/10.3389/fgene.2019.00248

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438860/
https://www.ncbi.nlm.nih.gov/pubmed/30967900
http://dx.doi.org/10.3389/fgene.2019.00248

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