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Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.
Whelan, Laura; Dockery, Adrian; Stephenson, Kirk A J; Zhu, Julia; Kopcic, 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.
Affiliation
  • 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.
  • Stephenson KAJ; Next Generation Sequencing Laboratory, Pathology Department, The Mater Misericordiae University Hospital, Dublin 7, Ireland.
  • Zhu J; Department of Ophthalmology, Royal Victoria Eye and Ear Hospital, Dublin 2, Ireland.
  • Kopcic E; Mater Clinical Ophthalmic Genetics Unit, The Mater Misericordiae University Hospital, Dublin 7, Ireland.
  • Post IJM; Mater Clinical Ophthalmic Genetics Unit, The Mater Misericordiae University Hospital, Dublin 7, Ireland.
  • Khan M; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, Ireland.
  • Corradi Z; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, Ireland.
  • Wynne N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • O' Byrne JJ; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
  • Duignan E; International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
  • Silvestri G; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Roosing S; Academic Alliance Genetics, Radboud University Medical Center, Nijmegen, and Maastricht University Medical Center+, Maastricht, The Netherlands.
  • Cremers FPM; Department of Ophthalmology, Royal Victoria Eye and Ear Hospital, Dublin 2, Ireland.
  • Keegan DJ; Mater Clinical Ophthalmic Genetics Unit, The Mater Misericordiae University Hospital, Dublin 7, Ireland.
  • Kenna PF; International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
  • Farrar GJ; National Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital, Dublin 7, Ireland.
Sci Rep ; 13(1): 9380, 2023 06 09.
Article in En | MEDLINE | ID: mdl-37296172
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Full text: 1 Database: MEDLINE Main subject: ATP-Binding Cassette Transporters / Macular Degeneration Limits: Humans Language: En Journal: Sci Rep Year: 2023 Type: Article Affiliation country: Ireland
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Full text: 1 Database: MEDLINE Main subject: ATP-Binding Cassette Transporters / Macular Degeneration Limits: Humans Language: En Journal: Sci Rep Year: 2023 Type: Article Affiliation country: Ireland