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Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Weisschuh, Nicole; Sturm, Marc; Baumann, Britta; Audo, Isabelle; Ayuso, Carmen; Bocquet, Beatrice; Branham, Kari; Brooks, Brian P; Catalá-Mora, Jaume; Giorda, Roberto; Heckenlively, John R; Hufnagel, Robert B; Jacobson, Samuel G; Kellner, Ulrich; Kitsiou-Tzeli, Sofia; Matet, Alexandre; Martorell Sampol, Loreto; Meunier, Isabelle; Rudolph, Günther; Sharon, Dror; Stingl, Katarina; Streubel, Berthold; Varsányi, Balázs; Wissinger, Bernd; Kohl, Susanne.
Afiliação
  • Weisschuh N; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
  • Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Baumann B; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
  • Audo I; Institut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France.
  • Ayuso C; CHNO des Quinze-Vingts, INSERM-DHOS CIC1423, Paris, France.
  • Bocquet B; Institute of Ophthalmology, University College of London, London, United Kingdom.
  • Branham K; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD UAM), Madrid, Spain.
  • Brooks BP; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Catalá-Mora J; Centre National de Référence «Maladies Sensorielles Génétiques¼, Service Ophtalmologie, Hôpital Gui de Chauliac, CHRU de Montpellier, Montpellier, France.
  • Giorda R; INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France.
  • Heckenlively JR; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan.
  • Hufnagel RB; National Eye Institute, National Institutes of Health, Bethesda, Maryland.
  • Jacobson SG; Ophthalmology, Hospital Sant Joan de Deu, Barcelona, Spain.
  • Kellner U; Molecular Biology Lab, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.
  • Kitsiou-Tzeli S; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan.
  • Matet A; National Eye Institute, National Institutes of Health, Bethesda, Maryland.
  • Martorell Sampol L; Department of Ophthalmology, Perelman School of Medicine, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Meunier I; Rare Retinal Disease Center, Augenzentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, Germany.
  • Rudolph G; Department of Medical Genetics, National & Kapodistrian University of Athens, Athens, Greece.
  • Sharon D; Department of Ophthalmology, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.
  • Stingl K; Laboratorio de Genética Molecular, Hospital Sant Joan de Deu, Barcelona, Spain.
  • Streubel B; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Varsányi B; Centre National de Référence «Maladies Sensorielles Génétiques¼, Service Ophtalmologie, Hôpital Gui de Chauliac, CHRU de Montpellier, Montpellier, France.
  • Wissinger B; Department of Ophthalmology, Ludwig-Maximilians-University, Munich, Germany.
  • Kohl S; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Hum Mutat ; 41(1): 255-264, 2020 01.
Article em En | MEDLINE | ID: mdl-31544997
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Íntrons / Pseudogenes / Defeitos da Visão Cromática / Éxons / Canais de Cátion Regulados por Nucleotídeos Cíclicos Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Íntrons / Pseudogenes / Defeitos da Visão Cromática / Éxons / Canais de Cátion Regulados por Nucleotídeos Cíclicos Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Alemanha