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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...

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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

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