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Article

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

International journal of molecular sciences - 27 Mar 2021

Donato Luigi, Abdalla Ebtesam Mohamed, Scimone Concetta, Alibrandi Simona, Rinaldi Carmela, Nabil Karim Mahmoud, D'Angelo Rosalia, Sidoti Antonina

Abstract excerpt

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 healthy consanguineous parents. METHODS: Mutational analysis of four RPA causative genes was realized by Sanger...

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Identifiers

PMID: 33801777
DOI: 10.3390/ijms22073484
PMCID: PMC8036374

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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