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

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-...

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Detalles Bibliográficos
Autores principales: Kadyshev, Vitaly V., Alekseeva, Ekaterina A., Strelnikov, Vladimir V., Stepanova, Anna A., Polyakov, Alexander V., Marakhonov, Andrey V., Kutsev, Sergey I., Zinchenko, Rena A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671488/
https://www.ncbi.nlm.nih.gov/pubmed/38003421
http://dx.doi.org/10.3390/ijms242216231

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671488/
https://www.ncbi.nlm.nih.gov/pubmed/38003421
http://dx.doi.org/10.3390/ijms242216231

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