Article
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.
Scientific reports - 9 Jun 2023
Whelan Laura, Dockery Adrian, Stephenson Kirk A J, Zhu Julia, Kopčić Ella, Post Iris J M, Khan Mubeen, Corradi Zelia, Wynne Niamh, O' Byrne James J, Duignan Emma, Silvestri Giuliana, Roosing Susanne, Cremers Frans P M, Keegan David J, Kenna Paul F, Farrar G Jane
Abstract excerpt
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 variants in the ABCA4 gene. Participants were clinically examined and underwent either target capture sequencing of the exons and some pathogenic intronic regions of ABCA4, sequencing of the entire...
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