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Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy

Pathogenic variants in pre-messenger RNA (pre-mRNA) splicing factor 31, PRPF31, are the second most common genetic cause of autosomal dominant retinitis pigmentosa (adRP) in most populations. This remains a completely untreatable and incurable form of blindness, and it can be difficult to predict th...

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Detalhes bibliográficos
Publicado no:Exp Eye Res
Main Authors: Wheway, Gabrielle, Douglas, Andrew, Baralle, Diana, Guillot, Elsa
Formato: Artigo
Idioma:Inglês
Publicado em: Academic Press 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7065041/
https://ncbi.nlm.nih.gov/pubmed/32014492
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.exer.2020.107950
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