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Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Mackay, Donna S; Borman, Arundhati Dev; Sui, Ruifang; van den Born, L Ingeborgh; Berson, Eliot L; Ocaka, Louise A; Davidson, Alice E; Heckenlively, John R; Branham, Kari; Ren, Huanan; Lopez, Irma; Maria, Maleeha; Azam, Maleeha; Henkes, Arjen; Blokland, Ellen; Qamar, Raheel; Webster, Andrew R; Cremers, Frans P M; Moore, Anthony T; Koenekoop, Robert K; Andreasson, Sten; de Baere, Elfride; Bennett, Jean; Chader, Gerald J; Berger, Wolfgang; Golovleva, Irina; Greenberg, Jacquie; den Hollander, Anneke I; Klaver, Caroline C W; Klevering, B Jeroen; Lorenz, Birgit; Preising, Markus N; Ramsear, Raj; Roberts, Lisa; Roepman, Ronald; Rohrschneider, Klaus; Wissinger, Bernd.
Afiliação
  • Mackay DS; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.
  • Borman AD; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.
  • Sui R; Moorfields Eye Hospital, London, UK.
  • van den Born LI; Ophthalmology, Peking Union Med College Hosp, Beijing, China.
  • Berson EL; The Rotterdam Eye Hospital, Rotterdam, The Netherlands.
  • Ocaka LA; Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear, Boston, Massachusetts, USA.
  • Davidson AE; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.
  • Heckenlively JR; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.
  • Branham K; Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan.
  • Ren H; Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan.
  • Lopez I; McGill Ocular Genetics Laboratory, Departments of Pediatric Surgery, Human Genetics and Ophthalmology, McGill University Health Centre, Montreal, Quebec, Canada.
  • Maria M; McGill Ocular Genetics Laboratory, Departments of Pediatric Surgery, Human Genetics and Ophthalmology, McGill University Health Centre, Montreal, Quebec, Canada.
  • Azam M; Department of Human Genetics, Radboud University Medical Centre, and Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands.
  • Henkes A; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.
  • Blokland E; Department of Human Genetics, Radboud University Medical Centre, and Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands.
  • Qamar R; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.
  • Webster AR; Department of Human Genetics, Radboud University Medical Centre, and Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands.
  • Cremers FPM; Department of Human Genetics, Radboud University Medical Centre, and Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands.
  • Moore AT; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.
  • Koenekoop RK; Al-Nafees Medical College & Hospital, Isra University, Islamabad, Pakistan.
  • Andreasson S; Moorfields Eye Hospital, London, UK.
  • de Baere E; Department of Human Genetics, Radboud University Medical Centre, and Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands.
  • Bennett J; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.
  • Chader GJ; Moorfields Eye Hospital, London, UK.
  • Berger W; McGill Ocular Genetics Laboratory, Departments of Pediatric Surgery, Human Genetics and Ophthalmology, McGill University Health Centre, Montreal, Quebec, Canada.
  • Greenberg J; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.
  • den Hollander AI; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.
  • Klaver CCW; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.
  • Klevering BJ; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.
  • Lorenz B; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.
  • Preising MN; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.
  • Ramsear R; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.
  • Roberts L; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.
  • Roepman R; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.
  • Rohrschneider K; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.
  • Wissinger B; Department of Human Genetics, Institute of Ophthalmology, UCL, London, UK.
Hum Mutat ; 34(11): 1537-1546, 2013 Nov.
Article em En | MEDLINE | ID: mdl-23946133
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Proteínas do Olho / Amaurose Congênita de Leber / Estudos de Associação Genética / Proteínas Associadas aos Microtúbulos / Mutação Idioma: En Ano de publicação: 2013 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Proteínas do Olho / Amaurose Congênita de Leber / Estudos de Associação Genética / Proteínas Associadas aos Microtúbulos / Mutação Idioma: En Ano de publicação: 2013 Tipo de documento: Article