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

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

Inherited retinal diseases (IRDs) constitute a prevalent group of inherited ocular disorders characterized by marked genetic diversity alongside moderate clinical variability. Among these, <i>ABCA4</i>-related eye pathology stands as a prominent form affecting the retina. In this study,...

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Bibliographic Details
Main Authors: Vitaly V. Kadyshev, Ekaterina A. Alekseeva, Vladimir V. Strelnikov, Anna A. Stepanova, Alexander V. Polyakov, Andrey V. Marakhonov, Sergey I. Kutsev, Rena A. Zinchenko
Format: Article
Language:English
Published: MDPI AG 2023-11-01
Series:International Journal of Molecular Sciences
Subjects:
<i>ABCA4</i>
Stargardt disease
cone-rode dystrophy
age-related macular dystrophy
retinitis pigmentosa
complex allele
Online Access:https://www.mdpi.com/1422-0067/24/22/16231

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https://www.mdpi.com/1422-0067/24/22/16231

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