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...

Descripción completa

Detalles Bibliográficos
Autores principales: Wheway, Gabrielle, Douglas, Andrew, Baralle, Diana, Guillot, Elsa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academic Press 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7065041/
https://www.ncbi.nlm.nih.gov/pubmed/32014492
http://dx.doi.org/10.1016/j.exer.2020.107950

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7065041/
https://www.ncbi.nlm.nih.gov/pubmed/32014492
http://dx.doi.org/10.1016/j.exer.2020.107950

Ejemplares similares