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Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.
Taylor, Rachel L; Poulter, James A; Downes, Susan M; McKibbin, Martin; Khan, Kamron N; Inglehearn, Chris F; Webster, Andrew R; Hardcastle, Alison J; Michaelides, Michel; Bishop, Paul N; Clark, Simon J; Black, Graeme C.
Afiliación
  • Taylor RL; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Fou
  • Poulter JA; Section of Ophthalmology and Neuroscience, Leeds Institute of Medical Research, University of Leeds, Leeds, United Kingdom.
  • Downes SM; Oxford Eye Hospital, Oxford University Hospitals, NHS Foundation Trust, Oxford, United Kingdom; Nuffield Department of Clinical Neuroscience, John Radcliffe Hospital, Oxford, United Kingdom.
  • McKibbin M; Department of Ophthalmology, St. James's University Hospital, Leeds, United Kingdom.
  • Khan KN; Section of Ophthalmology and Neuroscience, Leeds Institute of Medical Research, University of Leeds, Leeds, United Kingdom.
  • Inglehearn CF; Section of Ophthalmology and Neuroscience, Leeds Institute of Medical Research, University of Leeds, Leeds, United Kingdom.
  • Webster AR; UCL Institute of Ophthalmology, University College London, London, United Kingdom; Moorfields Eye Hospital, London, United Kingdom.
  • Hardcastle AJ; UCL Institute of Ophthalmology, University College London, London, United Kingdom.
  • Michaelides M; UCL Institute of Ophthalmology, University College London, London, United Kingdom; Moorfields Eye Hospital, London, United Kingdom.
  • Bishop PN; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom; Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation T
  • Clark SJ; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom; The Lydia Becker Institute of Immunology and Inflammation, Faculty of Biology, Medicine
  • Black GC; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Fou
Ophthalmology ; 126(10): 1410-1421, 2019 10.
Article en En | MEDLINE | ID: mdl-30905644

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Drusas Retinianas / Factor H de Complemento / Mutación Tipo de estudio: Observational_studies / Prognostic_studies Límite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Ophthalmology Año: 2019 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Drusas Retinianas / Factor H de Complemento / Mutación Tipo de estudio: Observational_studies / Prognostic_studies Límite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Ophthalmology Año: 2019 Tipo del documento: Article