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Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
Felden, Julia; Baumann, Britta; Ali, Manir; Audo, Isabelle; Ayuso, Carmen; Bocquet, Beatrice; Casteels, Ingele; Garcia-Sandoval, Blanca; Jacobson, Samuel G; Jurklies, Bernhard; Kellner, Ulrich; Kessel, Line; Lorenz, Birgit; McKibbin, Martin; Meunier, Isabelle; de Ravel, Thomy; Rosenberg, Thomas; Rüther, Klaus; Vadala, Maria; Wissinger, Bernd; Stingl, Katarina; Kohl, Susanne.
Afiliação
  • Felden J; Institute for Ophthalmic Research, Centre for Ophthalmology, University Tuebingen, Tuebingen, Germany.
  • Baumann B; Institute for Ophthalmic Research, Centre for Ophthalmology, University Tuebingen, Tuebingen, Germany.
  • Ali M; Section of Ophthalmology and Neuroscience, Leeds Institute of Medical Research at St. James's University Hospital, University of Leeds, Leeds, England.
  • Audo I; Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institute de la Vision/ CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS, Paris, France.
  • Ayuso C; University Hospital Fundación Jiménez Díaz/Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Bocquet B; Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac; Montpellier University and INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France.
  • Casteels I; Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium.
  • Garcia-Sandoval B; Department of Ophthalmology, Fundación Jimenez Diaz University Hospital, Madrid, Spain.
  • Jacobson SG; Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Jurklies B; Helios Clinics Wuppertal, Wuppertal, Germany.
  • Kellner U; Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Europaplatz 3, Siegburg, Germany.
  • Kessel L; The National Eye Clinic, Rigshospitalet, Kennedy Center, Glostrup, Denmark.
  • Lorenz B; Department of Clinical Medicine, University of Copenhagen, Denmark.
  • McKibbin M; Department of Ophthalmology, Justus-Liebig-University Giessen, Giessen, Germany.
  • Meunier I; Section of Ophthalmology and Neuroscience, Leeds Institute of Medical Research at St. James's University Hospital, University of Leeds, Leeds, England.
  • de Ravel T; Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac; Montpellier University and INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France.
  • Rosenberg T; Center for Human Genetics, University Hospitals Leuven, University of Leuven, Leuven, Belgium.
  • Rüther K; The National Eye Clinic, Rigshospitalet, Kennedy Center, Glostrup, Denmark.
  • Vadala M; Department of Clinical Medicine, University of Copenhagen, Denmark.
  • Wissinger B; Augenarztpraxis, Dorotheenstrasse 56, Berlin, Germany.
  • Stingl K; Ophthalmology Institute, Dipartimento di Biomedicina, Neuroscienze e Diagnostica Avanzata (BiND), Università degli Studi di Palermo.
  • Kohl S; Institute for Ophthalmic Research, Centre for Ophthalmology, University Tuebingen, Tuebingen, Germany.
Hum Mutat ; 40(8): 1145-1155, 2019 08.
Article em En | MEDLINE | ID: mdl-31058429
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Defeitos da Visão Cromática / Análise de Sequência de DNA / Proteínas Heterotriméricas de Ligação ao GTP / Mutação Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Defeitos da Visão Cromática / Análise de Sequência de DNA / Proteínas Heterotriméricas de Ligação ao GTP / Mutação Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article