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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.

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作者单位: Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. [1] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. [2] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. [3] Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands. [4] Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium. [5] The Rotterdam Eye Hospital and the Rotterdam Ophthalmic Institute, Rotterdam, The Netherlands. [6] Department of Medical Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. [7] Department of Ophthalmology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. [8] Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands. [9] Service d'Exploration de la Vision CHU, Lille, France. [10] Institute for Neurosciences of Montpellier INSERM U1051, University of Montpellier, Montpellier, France. [11] Centre d'Etude du Polymorphisme Humain, Fondation Jean Dausset, Paris, France. [12] UCL Institute of Ophthalmology, London, UK. [13] Moorfields Eye Hospital, London, UK. [14] Department of Haematology, University of Cambridge, Cambridge, UK. [15] NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK. [16] Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK. [17] Univ. Lille, Inserm UMR-S 1172, CHU Lille, Biochemistry and Molecular Biology Department - UF Génopathies, Lille, France. [18] Institut für Humangenetik, Universität Regensburg, Regensburg, Germany. [19] Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden. [20] Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. rob.collin@radboudumc.nl. [21] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. rob.collin@radboudumc.nl. [22] Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. frans.cremers@radboudumc.nl. [23] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. frans.cremers@radboudumc.nl. [24]
DOI 10.1038/s41436-018-0414-9
PMID 30643219
发布时间 2022-02-10
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Genetics in medicine : official journal of the American College of Medical Genetics

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