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

Autor: Whelan L; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, Ireland. whelanl1@tcd.ie., Dockery A; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, Ireland.; Next Generation Sequencing Laboratory, Pathology Department, The Mater Misericordiae University Hospital, Dublin 7, Ireland., Stephenson KAJ; Department of Ophthalmology, Royal Victoria Eye and Ear Hospital, Dublin 2, Ireland.; Mater Clinical Ophthalmic Genetics Unit, The Mater Misericordiae University Hospital, Dublin 7, Ireland., Zhu J; Mater Clinical Ophthalmic Genetics Unit, The Mater Misericordiae University Hospital, Dublin 7, Ireland., Kopčić E; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, Ireland., Post IJM; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, Ireland., Khan M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Corradi Z; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Academic Alliance Genetics, Radboud University Medical Center, Nijmegen, and Maastricht University Medical Center+, Maastricht, The Netherlands., Wynne N; Department of Ophthalmology, Royal Victoria Eye and Ear Hospital, Dublin 2, Ireland., O' Byrne JJ; Mater Clinical Ophthalmic Genetics Unit, The Mater Misericordiae University Hospital, Dublin 7, Ireland.; International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; National Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital, Dublin 7, Ireland.; School of Medicine, Trinity College Dublin, Dublin 2, Ireland., Duignan E; Department of Ophthalmology, Royal Victoria Eye and Ear Hospital, Dublin 2, Ireland., Silvestri G; Centre for Experimental Medicine, Queen's University Belfast, Belfast, Northern Ireland, UK.; School of Medicine, University College Dublin, Dublin 4, Ireland.; Department of Ophthalmology, The Royal Victoria Hospital, Belfast, Northern Ireland, UK., Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Academic Alliance Genetics, Radboud University Medical Center, Nijmegen, and Maastricht University Medical Center+, Maastricht, The Netherlands., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Academic Alliance Genetics, Radboud University Medical Center, Nijmegen, and Maastricht University Medical Center+, Maastricht, The Netherlands., Keegan DJ; Mater Clinical Ophthalmic Genetics Unit, The Mater Misericordiae University Hospital, Dublin 7, Ireland., Kenna PF; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, Ireland.; Department of Ophthalmology, Royal Victoria Eye and Ear Hospital, Dublin 2, Ireland., Farrar GJ; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, Ireland.

Publikováno v: Scientific reports [Sci Rep] 2023 Jun 09; Vol. 13 (1), pp. 9380. Date of Electronic Publication: 2023 Jun 09.