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Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.
Astuti, Galuh D N; Sun, Vincent; Bauwens, Miriam; Zobor, Ditta; Leroy, Bart P; Omar, Amer; Jurklies, Bernhard; Lopez, Irma; Ren, Huanan; Yazar, Volkan; Hamel, Christian; Kellner, Ulrich; Wissinger, Bernd; Kohl, Susanne; De Baere, Elfride; Collin, Rob W J; Koenekoop, Robert K.
Afiliação
  • Astuti GD; Department of Human Genetics, Radboud University Medical Centre Nijmegen, The Netherlands ; Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre Nijmegen, The Netherlands ; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro Univers
  • Sun V; McGill Ocular Genetics Laboratory, Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre Montreal, Quebec, Canada.
  • Bauwens M; Center for Medical Genetics, Ghent University Hospital Ghent, Belgium.
  • Zobor D; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen Tübingen, Germany.
  • Leroy BP; Center for Medical Genetics, Ghent University Hospital Ghent, Belgium ; Department of Ophthalmology, Ghent University Hospital Ghent, Belgium.
  • Omar A; McGill Ocular Genetics Laboratory, Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre Montreal, Quebec, Canada ; Moorfields Eye Hospital London, United Kingdom.
  • Jurklies B; Department of Ophthalmology, University of Essen Essen, Germany.
  • Lopez I; McGill Ocular Genetics Laboratory, Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre Montreal, Quebec, Canada.
  • Ren H; McGill Ocular Genetics Laboratory, Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre Montreal, Quebec, Canada.
  • Yazar V; Department of Human Genetics, Radboud University Medical Centre Nijmegen, The Netherlands.
  • Hamel C; Institute of Neurosciences of Montpellier, Hôpital Saint Eloi Montpellier, France.
  • Kellner U; Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH Siegburg, Germany.
  • Wissinger B; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen Tübingen, Germany.
  • Kohl S; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen Tübingen, Germany.
  • De Baere E; Center for Medical Genetics, Ghent University Hospital Ghent, Belgium.
  • Collin RW; Department of Human Genetics, Radboud University Medical Centre Nijmegen, The Netherlands ; Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre Nijmegen, The Netherlands.
  • Koenekoop RK; McGill Ocular Genetics Laboratory, Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre Montreal, Quebec, Canada.
Mol Genet Genomic Med ; 3(1): 14-29, 2015 Jan.
Article em En | MEDLINE | ID: mdl-25629076
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2015 Tipo de documento: Article