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Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles.
Runhart, Esmee H; Valkenburg, Dyon; Cornelis, Stéphanie S; Khan, Mubeen; Sangermano, Riccardo; Albert, Silvia; Bax, Nathalie M; Astuti, Galuh D N; Gilissen, Christian; Pott, Jan-Willem R; Verheij, Joke B G M; Blokland, Ellen A W; Cremers, Frans P M; van den Born, L Ingeborgh; Hoyng, Carel B.
Affiliation
  • Runhart EH; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Valkenburg D; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Cornelis SS; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Khan M; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Sangermano R; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Albert S; 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.
  • Astuti GDN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Pott JR; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States.
  • Verheij JBGM; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Blokland EAW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Cremers FPM; Department of Ophthalmology, 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.
  • Hoyng CB; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Invest Ophthalmol Vis Sci ; 60(13): 4249-4256, 2019 10 01.
Article in En | MEDLINE | ID: mdl-31618761
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: ATP-Binding Cassette Transporters / Stargardt Disease Type of study: Prognostic_studies Limits: Aged / Female / Humans / Male / Middle aged Language: En Journal: Invest Ophthalmol Vis Sci Year: 2019 Document type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: ATP-Binding Cassette Transporters / Stargardt Disease Type of study: Prognostic_studies Limits: Aged / Female / Humans / Male / Middle aged Language: En Journal: Invest Ophthalmol Vis Sci Year: 2019 Document type: Article