Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients

Abstract 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 un...

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Main Authors:	Laura Whelan, Adrian Dockery, Kirk A. J. Stephenson, Julia Zhu, Ella Kopčić, Iris J. M. Post, Mubeen Khan, Zelia Corradi, Niamh Wynne, James J. O’ Byrne, Emma Duignan, Giuliana Silvestri, Susanne Roosing, Frans P. M. Cremers, David J. Keegan, Paul F. Kenna, G. Jane Farrar
Format:	Article
Language:	English
Published:	Nature Portfolio 2023-06-01
Series:	Scientific Reports
Online Access:	https://doi.org/10.1038/s41598-023-35889-9

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