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

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

Pathogenic variants in the <i>RPE65</i> 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...

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Bibliographic Details
Main Authors: Anna Stepanova, Natalya Ogorodova, Vitaly Kadyshev, Olga Shchagina, Sergei Kutsev, Aleksandr Polyakov
Format: Article
Language:English
Published: MDPI AG 2023-11-01
Series:Genes
Subjects:
<i>RPE65</i>
inherited retinal degenerations
RPE65-associated retinopathies
c.304G>T/p.(Glu102*)
c.370C>T/p.(Arg124*)
c.272G>A/p.(Arg91Gln)
Online Access:https://www.mdpi.com/2073-4425/14/11/2056

Internet

https://www.mdpi.com/2073-4425/14/11/2056

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