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Paper Details

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Genet Med
123
2019
Author NameAffiliation
Caroline C W KlaverRadboud University Medical Center
Caroline C W KlaverErasmus Medical Center
Gavin ArnoUCL Institute of Ophthalmology
Gavin ArnoMoorfields Eye Hospital
Frances Lucy RaymondCambridge University Hospitals NHS Foundation Trust
Frances Lucy RaymondCambridge Institute for Medical Research, University of Cambridge
Andrew R WebsterUCL Institute of Ophthalmology
Andrew R WebsterMoorfields Eye Hospital
Felix GrassmannInstitut fur Humangenetik, Universitat Regensburg
Felix GrassmannKarolinska Institutet
Carel B HoyngDonders Institute for Brain, Radboud University Medical Center
Carel B HoyngRadboud University Medical Center
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