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Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.
Weisschuh, Nicole; Stingl, Katarina; Audo, Isabelle; Biskup, Saskia; Bocquet, Béatrice; Branham, Kari; Burstedt, Marie S; De Baere, Elfride; De Vries, Meindert J; Golovleva, Irina; Green, Andrew; Heckenlively, John; Leroy, Bart P; Meunier, Isabelle; Traboulsi, Elias; Wissinger, Bernd; Kohl, Susanne.
Afiliação
  • Weisschuh N; Institute for Ophthalmic Research, Centre for Ophthalmology, University Tuebingen, Tuebingen, Germany.
  • Stingl K; Institute for Ophthalmic Research, Centre for Ophthalmology, University Tuebingen, Tuebingen, Germany.
  • Audo I; Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Biskup S; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, Paris, France.
  • Bocquet B; CeGaT GmbH and Praxis fuer Humangenetik Tuebingen, Tuebingen, Germany.
  • Branham K; Institute for Neurosciences of Montpellier INSERM U1051, University of Montpellier, Montpellier, France.
  • Burstedt MS; National Center for Rare Genetic Retinal Dystrophies, Hopital Gui de Chauliac, Montpellier, France.
  • De Baere E; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan.
  • De Vries MJ; Department of Clinical Sciences/Ophthalmology, University of Umea, Umea, Sweden.
  • Golovleva I; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Green A; Department of Ophthalmology, Childrens' Hospital Queen Fabiola (Huderf), Brussels, Belgium.
  • Heckenlively J; Department of Medical Biosciences/Medical and Clinical Genetics, University of Umea, Umea, Sweden.
  • Leroy BP; Department of Clinical Genetics, Our Lady's Hospital, Crumlin, Dublin, Ireland.
  • Meunier I; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
  • Traboulsi E; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan.
  • Wissinger B; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Kohl S; Ophthalmic Genetics & Visual Electrophysiology, Division of Ophthalmology & Center for Cellular & Molecular Therapy, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Hum Mutat ; 39(10): 1366-1371, 2018 10.
Article em En | MEDLINE | ID: mdl-30080950
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Defeitos da Visão Cromática / Predisposição Genética para Doença / Domínio Catalítico / Proteínas do Olho / Nucleotídeo Cíclico Fosfodiesterase do Tipo 6 / Estudos de Associação Genética / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Humans / Infant / Newborn Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Defeitos da Visão Cromática / Predisposição Genética para Doença / Domínio Catalítico / Proteínas do Olho / Nucleotídeo Cíclico Fosfodiesterase do Tipo 6 / Estudos de Associação Genética / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Humans / Infant / Newborn Idioma: En Ano de publicação: 2018 Tipo de documento: Article