Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia

The aim of this study was to describe a new pathogenic variant in the mutational hot spot exon ORF15 of retinitis pigmentosa GTPase regulator (RPGR) gene within an Italian family with X-linked retinitis pigmentosa (RP), detailing its distinctive genotype-phenotype correlation with pathologic myopia...

Descripción completa

Detalles Bibliográficos
Autores principales: Parmeggiani, Francesco, Barbaro, Vanessa, De Nadai, Katia, Lavezzo, Enrico, Toppo, Stefano, Chizzolini, Marzio, Palù, Giorgio, Parolin, Cristina, Di Iorio, Enzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5171904/
https://www.ncbi.nlm.nih.gov/pubmed/27995965
http://dx.doi.org/10.1038/srep39179

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5171904/
https://www.ncbi.nlm.nih.gov/pubmed/27995965
http://dx.doi.org/10.1038/srep39179

Ejemplares similares