Chargement en cours...

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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Exp Eye Res
Auteurs principaux: Wheway, Gabrielle, Douglas, Andrew, Baralle, Diana, Guillot, Elsa
Format: Artigo
Langue:Inglês
Publié: Academic Press 2020
Sujets:
Accès en ligne: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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!