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Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene.
Kousal, Bohdan; Skalicka, Pavlina; Valesova, Lucie; Fletcher, Tracy; Hart-Holden, Niki; O'Grady, Anna; Chakarova, Christina F; Michaelides, Michel; Hardcastle, Alison J; Liskova, Petra.
Affiliation
  • Kousal B; Department of Ophthalmology, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic ; Laboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Disorders; First Faculty of Medicine, Charles University in Prague and
  • Skalicka P; Department of Ophthalmology, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic.
  • Valesova L; Department of Ophthalmology, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic.
  • Fletcher T; Regional Molecular Genetics Service, St Mary's Hospital, Manchester, United Kingdom.
  • Hart-Holden N; Regional Molecular Genetics Service, St Mary's Hospital, Manchester, United Kingdom.
  • O'Grady A; Regional Molecular Genetics Service, St Mary's Hospital, Manchester, United Kingdom.
  • Chakarova CF; UCL Institute of Ophthalmology, London, United Kingdom.
  • Michaelides M; UCL Institute of Ophthalmology, London, United Kingdom ; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.
  • Hardcastle AJ; UCL Institute of Ophthalmology, London, United Kingdom.
  • Liskova P; Department of Ophthalmology, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic ; Laboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Disorders; First Faculty of Medicine, Charles University in Prague and
Mol Vis ; 20: 1307-17, 2014.
Article in En | MEDLINE | ID: mdl-25352739
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retina / Base Sequence / Retinitis Pigmentosa / Sequence Deletion / Genes, X-Linked / Eye Proteins Type of study: Prognostic_studies Limits: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Language: En Journal: Mol Vis Journal subject: BIOLOGIA MOLECULAR / OFTALMOLOGIA Year: 2014 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retina / Base Sequence / Retinitis Pigmentosa / Sequence Deletion / Genes, X-Linked / Eye Proteins Type of study: Prognostic_studies Limits: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Language: En Journal: Mol Vis Journal subject: BIOLOGIA MOLECULAR / OFTALMOLOGIA Year: 2014 Document type: Article