Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling

Background: Retinitis pigmentosa punctata albescens (RPA) is a particular form of retinitis pigmentosa characterized by childhood onset night blindness and areas of peripheral retinal atrophy. We investigated the genetic cause of RPA in a family consisting of two affected Egyptian brothers with heal...

Descripción completa

Detalles Bibliográficos
Autores principales: Donato, Luigi, Abdalla, Ebtesam Mohamed, Scimone, Concetta, Alibrandi, Simona, Rinaldi, Carmela, Nabil, Karim Mahmoud, D’Angelo, Rosalia, Sidoti, Antonina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8036374/
https://www.ncbi.nlm.nih.gov/pubmed/33801777
http://dx.doi.org/10.3390/ijms22073484

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8036374/
https://www.ncbi.nlm.nih.gov/pubmed/33801777
http://dx.doi.org/10.3390/ijms22073484

Ejemplares similares