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

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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Bibliographic Details
Main Authors: Luigi Donato, Ebtesam Mohamed Abdalla, Concetta Scimone, Simona Alibrandi, Carmela Rinaldi, Karim Mahmoud Nabil, Rosalia D'Angelo, Antonina Sidoti
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:International Journal of Molecular Sciences
Subjects:
Retinitis pigmentosa punctata albescens
<i>PRPH2</i>
rHTV
<i>RHO</i>
<i>RLBP1</i>
Online Access:https://www.mdpi.com/1422-0067/22/7/3484

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https://www.mdpi.com/1422-0067/22/7/3484

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