Browsing Genetics (Scholarly Publications) by Subject "ABCA4 gene"
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Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients
(2023)Over 15% of probands in a large cohort of more than 1500 inherited retinal degeneration patients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic ... -
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
(2023)The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene. Biallelic variants lead to a variety of pheno types, however, for thousands of cases the underlying variants remain unknown. Here, we aim ...