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Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.
Vincent, Ajoy; Audo, Isabelle; Tavares, Erika; Maynes, Jason T; Tumber, Anupreet; Wright, Thomas; Li, Shuning; Michiels, Christelle; Condroyer, Christel; MacDonald, Heather; Verdet, Robert; Sahel, José-Alain; Hamel, Christian P; Zeitz, Christina; Héon, Elise.
Affiliation
  • Vincent A; Department of Ophthalmology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Ophthalmology, University of Toronto, 340 College Street, Toronto, ON M5T 3A9, Canada.
  • Audo I; INSERM, CNRS, Université Pierre et Marie Curie (Paris 6), Sorbornne Universités, Institut de la Vision, 17 rue Moreau, 75012 Paris, France; INSERM-DHOS CIC1423, Centre Hospitalier National d'Ophtalmologie (CHNO) des Quinze-Vingts, DHU Sight Restore, 28 Rue de Charenton, 75012 Paris, France; Institut
  • Tavares E; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
  • Maynes JT; Department of Anesthesia and Pain Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Program in Molecular Structure and Function, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
  • Tumber A; Department of Ophthalmology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Wright T; Department of Ophthalmology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Li S; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
  • Michiels C; INSERM, CNRS, Université Pierre et Marie Curie (Paris 6), Sorbornne Universités, Institut de la Vision, 17 rue Moreau, 75012 Paris, France.
  • Condroyer C; INSERM, CNRS, Université Pierre et Marie Curie (Paris 6), Sorbornne Universités, Institut de la Vision, 17 rue Moreau, 75012 Paris, France.
  • MacDonald H; Department of Ophthalmology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Verdet R; Eye Center, 3 Rue Rigoberta Menchu, 84000 Avignon, France.
  • Sahel JA; INSERM, CNRS, Université Pierre et Marie Curie (Paris 6), Sorbornne Universités, Institut de la Vision, 17 rue Moreau, 75012 Paris, France; INSERM-DHOS CIC1423, Centre Hospitalier National d'Ophtalmologie (CHNO) des Quinze-Vingts, DHU Sight Restore, 28 Rue de Charenton, 75012 Paris, France; Institut
  • Hamel CP; INSERM U 1051, Institut des Neurosciences de Montpellier, Hôpital Saint-Eloi, 34295 Montpellier Cedex 05, France; Affections Sensorielles Génétiques, CHU de Montpellier, 191 Avenue du Doyen Gaston Giraud, 34295 Montpellier Cedex, France; Université Montpellier, 163 Avenue Auguste Broussonnet, 34090
  • Zeitz C; INSERM, CNRS, Université Pierre et Marie Curie (Paris 6), Sorbornne Universités, Institut de la Vision, 17 rue Moreau, 75012 Paris, France.
  • Héon E; Department of Ophthalmology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Ophthalmology, University of Toronto, 340 College Street, Toronto, ON M5T 3A9, Canada. Electron
Am J Hum Genet ; 98(5): 1011-1019, 2016 05 05.
Article in En | MEDLINE | ID: mdl-27063057
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Eye Diseases, Hereditary / Night Blindness / Heterotrimeric GTP-Binding Proteins / Genetic Diseases, X-Linked / Genes, Recessive / Mutation / Myopia Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Animals / Female / Humans / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2016 Type: Article Affiliation country: Canada
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Eye Diseases, Hereditary / Night Blindness / Heterotrimeric GTP-Binding Proteins / Genetic Diseases, X-Linked / Genes, Recessive / Mutation / Myopia Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Animals / Female / Humans / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2016 Type: Article Affiliation country: Canada