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

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 i...

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Detalles Bibliográficos
Autores principales: Stepanova, Anna, Ogorodova, Natalya, Kadyshev, Vitaly, Shchagina, Olga, Kutsev, Sergei, Polyakov, Aleksandr
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671290/
https://www.ncbi.nlm.nih.gov/pubmed/38002999
http://dx.doi.org/10.3390/genes14112056

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671290/
https://www.ncbi.nlm.nih.gov/pubmed/38002999
http://dx.doi.org/10.3390/genes14112056

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