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Article

A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation.

Genes - 9 Nov 2023

Stepanova Anna, Ogorodova Natalya, Kadyshev Vitaly, Shchagina Olga, Kutsev Sergei, Polyakov Aleksandr

Abstract excerpt

Pathogenic variants in the RPE65 gene cause the only known form of inherited retinal degenerations (IRDs) that are prone to gene therapy. The current study is aimed at the evaluation of the prevalence of RPE65-associated retinopathy in the Russian Federation, the characterization of known variants in the RPE65 gene, and the establishment of the specificities of the mutation spectrum in Russian patients. METHODS:...

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Identifiers

PMID: 38002999
DOI: 10.3390/genes14112056
PMCID: PMC10671290

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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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