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Article

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.

Experimental eye research - 1 Apr 2016

Ścieżyńska Aneta, Oziębło Dominika, Ambroziak Anna M, Korwin Magdalena, Szulborski Kamil, Krawczyński Maciej, Stawiński Piotr, Szaflik Jerzy, Szaflik Jacek P, Płoski Rafał, Ołdak Monika

Abstract excerpt

Variation in the ABCA4 locus has emerged as the most prevalent cause of monogenic retinal diseases. The study aimed to discover causative ABCA4 mutations in a large but not previously investigated cohort with ABCA4-related diseases originating from Central Europe and to refine the genetic relevance of all identified variants based on population evidence. Comprehensive clinical studies were performed to identify...

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Source

Identifiers

PMID: 26593885
DOI: 10.1016/j.exer.2015.11.011

Genes

ABCA4

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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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