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Article

Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population.

International journal of molecular sciences - 12 Nov 2023

Kadyshev Vitaly V, Alekseeva Ekaterina A, Strelnikov Vladimir V, Stepanova Anna A, Polyakov Alexander V, Marakhonov Andrey V, Kutsev Sergey I, Zinchenko Rena A

Abstract excerpt

Inherited retinal diseases (IRDs) constitute a prevalent group of inherited ocular disorders characterized by marked genetic diversity alongside moderate clinical variability. Among these, ABCA4-related eye pathology stands as a prominent form affecting the retina. In this study, we conducted an in-depth analysis of 96 patients harboring ABCA4 variants in the European part of Russia. Notably, the complex allele...

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Identifiers

PMID: 38003421
DOI: 10.3390/ijms242216231
PMCID: PMC10671488

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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