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Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene.
Ba-Abbad, Rola; Leys, Monique; Wang, Xinjing; Chakarova, Christina; Waseem, Naushin; Carss, Keren J; Raymond, F Lucy; Bujakowska, Kinga M; Pierce, Eric A; Mahroo, Omar A; Mohamed, Moin D; Holder, Graham E; Hummel, Marybeth; Arno, Gavin; Webster, Andrew R.
Afiliação
  • Ba-Abbad R; UCL Institute of Ophthalmology, London, United Kingdom.
  • Leys M; Moorfields Eye Hospital, London, United Kingdom.
  • Wang X; WVU Eye Institute, West Virginia University, Morgantown, West Virginia, United States.
  • Chakarova C; Genetics Laboratory, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, United States.
  • Waseem N; UCL Institute of Ophthalmology, London, United Kingdom.
  • Carss KJ; UCL Institute of Ophthalmology, London, United Kingdom.
  • Raymond FL; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.
  • Bujakowska KM; NIHR BioResource-Rare Diseases, University of Cambridge, Cambridge, United Kingdom.
  • Pierce EA; NIHR BioResource-Rare Diseases, University of Cambridge, Cambridge, United Kingdom.
  • Mahroo OA; Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom.
  • Mohamed MD; Massachusetts Eye and Ear Infirmary, Ocular Genomics Institute, Boston, Massachusetts, United States.
  • Holder GE; Harvard Medical School, Boston, Massachusetts, United States.
  • Hummel M; Massachusetts Eye and Ear Infirmary, Ocular Genomics Institute, Boston, Massachusetts, United States.
  • Arno G; Harvard Medical School, Boston, Massachusetts, United States.
  • Webster AR; UCL Institute of Ophthalmology, London, United Kingdom.
Invest Ophthalmol Vis Sci ; 59(12): 4812-4820, 2018 10 01.
Article em En | MEDLINE | ID: mdl-30347075

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Degeneração Retiniana / Mutação da Fase de Leitura / Receptores Acoplados a Proteínas G / Epitélio Pigmentado da Retina Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Degeneração Retiniana / Mutação da Fase de Leitura / Receptores Acoplados a Proteínas G / Epitélio Pigmentado da Retina Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article