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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Sangermano, Riccardo; Garanto, Alejandro; Khan, Mubeen; Runhart, Esmee H; Bauwens, Miriam; Bax, Nathalie M; van den Born, L Ingeborgh; Khan, Muhammad Imran; Cornelis, Stéphanie S; Verheij, Joke B G M; Pott, Jan-Willem R; Thiadens, Alberta A H J; Klaver, Caroline C W; Puech, Bernard; Meunier, Isabelle; Naessens, Sarah; Arno, Gavin; Fakin, Ana; Carss, Keren J; Raymond, F Lucy; Webster, Andrew R; Dhaenens, Claire-Marie; Stöhr, Heidi; Grassmann, Felix; Weber, Bernhard H F; Hoyng, Carel B; De Baere, Elfride; Albert, Silvia; Collin, Rob W J; Cremers, Frans P M.
Affiliation
  • Sangermano R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Garanto A; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Khan M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Runhart EH; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Bauwens M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Bax NM; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van den Born LI; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Khan MI; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Cornelis SS; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Verheij JBGM; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Pott JR; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Thiadens AAHJ; The Rotterdam Eye Hospital and the Rotterdam Ophthalmic Institute, Rotterdam, The Netherlands.
  • Klaver CCW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Puech B; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Meunier I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Naessens S; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Arno G; Department of Medical Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Fakin A; Department of Ophthalmology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Carss KJ; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Raymond FL; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Webster AR; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Dhaenens CM; Service d'Exploration de la Vision CHU, Lille, France.
  • Stöhr H; Institute for Neurosciences of Montpellier INSERM U1051, University of Montpellier, Montpellier, France.
  • Grassmann F; Centre d'Etude du Polymorphisme Humain, Fondation Jean Dausset, Paris, France.
  • Weber BHF; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Hoyng CB; UCL Institute of Ophthalmology, London, UK.
  • De Baere E; Moorfields Eye Hospital, London, UK.
  • Albert S; UCL Institute of Ophthalmology, London, UK.
  • Collin RWJ; Moorfields Eye Hospital, London, UK.
  • Cremers FPM; Department of Haematology, University of Cambridge, Cambridge, UK.
Genet Med ; 21(8): 1751-1760, 2019 08.
Article in En | MEDLINE | ID: mdl-30643219
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Oligonucleotides, Antisense / ATP-Binding Cassette Transporters / Protein Isoforms / Stargardt Disease Limits: Adolescent / Adult / Aged / Child / Humans / Middle aged Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Países Bajos
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Oligonucleotides, Antisense / ATP-Binding Cassette Transporters / Protein Isoforms / Stargardt Disease Limits: Adolescent / Adult / Aged / Child / Humans / Middle aged Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Países Bajos