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The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard, Luke; Baux, David; Vaché, Christel; Blanchet, Catherine; Meunier, Isabelle; Willems, Marjolaine; Faugère, Valérie; Baudoin, Corinne; Moclyn, Melody; Bianchi, Julie; Dollfus, Helene; Gilbert-Dussardier, Brigitte; Dupin-Deguine, Delphine; Bonneau, Dominique; Drumare, Isabelle; Odent, Sylvie; Zanlonghi, Xavier; Claustres, Mireille; Koenig, Michel; Kalatzis, Vasiliki; Roux, Anne-Françoise.
Afiliação
  • Mansard L; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
  • Baux D; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
  • Vaché C; Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, F-34000 Montpellier, France.
  • Blanchet C; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
  • Meunier I; Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, F-34000 Montpellier, France.
  • Willems M; National Reference Centre for Inherited Sensory Diseases, University Montpellier, CHU Montpellier, F-34000 Montpellier, France.
  • Faugère V; Oto Laryngology Department, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
  • Baudoin C; Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, F-34000 Montpellier, France.
  • Moclyn M; National Reference Centre for Inherited Sensory Diseases, University Montpellier, CHU Montpellier, F-34000 Montpellier, France.
  • Bianchi J; Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, F-34000 Montpellier, France.
  • Dollfus H; Medical Genetics Department, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
  • Gilbert-Dussardier B; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
  • Dupin-Deguine D; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
  • Bonneau D; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
  • Drumare I; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
  • Odent S; Reference Center for Rare Affections in Ophthalmology Genetics (CARGO), Institute of Medical Genetics of Alsace, University of Strasbourg, CHU Strasbourg, F-67000 Strasbourg, France.
  • Zanlonghi X; Medical Genetics Department, University of Poitiers, CHU Poitiers, F-86000 Poitiers, France.
  • Claustres M; Medical Genetics Department, University of Toulouse, CHU Purpan, F-31000 Toulouse, France.
  • Koenig M; Medical Genetics Department, University of Angers, CHU Angers, F-49000 Angers, France.
  • Kalatzis V; Vision and Neuro-Ophthalmology Department, University of Lille, CHU Lille, F-59000 Lille, France.
  • Roux AF; Clinical Genetics Service, University Hospital, Genetics and Development Institute of Rennes IDGDR, UMR6290 University of Rennes, F-35000 Rennes, France.
Int J Mol Sci ; 22(24)2021 Dec 10.
Article em En | MEDLINE | ID: mdl-34948090
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas da Matriz Extracelular / Mutação de Sentido Incorreto / Sítios de Splice de RNA / Síndromes de Usher / Miosina VIIa / Genótipo Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Female / Humans / Male País como assunto: Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas da Matriz Extracelular / Mutação de Sentido Incorreto / Sítios de Splice de RNA / Síndromes de Usher / Miosina VIIa / Genótipo Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Female / Humans / Male País como assunto: Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article