Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression

PURPOSE: Heterozygous mutations in the gene PRPF31, encoding a pre-mRNA splicing factor, cause autosomal dominant retinitis pigmentosa (adRP) with reduced penetrance. At the molecular level, pathogenicity results from haploinsufficiency, as the largest majority of such mutations trigger nonsense-med...

Descripción completa

Detalles Bibliográficos
Autores principales: Ruberto, Francesco Paolo, Balzano, Sara, Namburi, Prasanthi, Kimchi, Adva, Pescini-Gobert, Rosanna, Obolensky, Alexey, Banin, Eyal, Ben-Yosef, Tamar, Sharon, Dror, Rivolta, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8056469/
https://www.ncbi.nlm.nih.gov/pubmed/33907366

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8056469/
https://www.ncbi.nlm.nih.gov/pubmed/33907366

Ejemplares similares