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Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.
Fiorentino, Alessia; Yu, Jing; Arno, Gavin; Pontikos, Nikolas; Halford, Stephanie; Broadgate, Suzanne; Michaelides, Michel; Carss, Keren J; Raymond, F Lucy; Cheetham, Michael E; Webster, Andrew R; Downes, Susan M; Hardcastle, Alison J.
Affiliation
  • Fiorentino A; UCL Institute of Ophthalmology, London, UK.
  • Yu J; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK.
  • Arno G; UCL Institute of Ophthalmology, London, UK.
  • Pontikos N; Moorfields Eye Hospital, London, UK.
  • Halford S; UCL Institute of Ophthalmology, London, UK.
  • Broadgate S; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK.
  • Michaelides M; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK.
  • Carss KJ; UCL Institute of Ophthalmology, London, UK.
  • Raymond FL; Moorfields Eye Hospital, London, UK.
  • Cheetham ME; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge, UK.
  • Webster AR; NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
  • Downes SM; NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
  • Hardcastle AJ; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
Mol Vis ; 24: 603-612, 2018.
Article in En | MEDLINE | ID: mdl-30210231
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carrier Proteins / Retinitis Pigmentosa / Mutation Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Mol Vis Journal subject: BIOLOGIA MOLECULAR / OFTALMOLOGIA Year: 2018 Type: Article Affiliation country: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carrier Proteins / Retinitis Pigmentosa / Mutation Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Mol Vis Journal subject: BIOLOGIA MOLECULAR / OFTALMOLOGIA Year: 2018 Type: Article Affiliation country: United kingdom