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Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.
Vaché, Christel; Cubedo, Nicolas; Mansard, Luke; Sarniguet, Jérôme; Baux, David; Faugère, Valérie; Baudoin, Corinne; Moclyn, Melody; Touraine, Renaud; Lina-Granade, Geneviève; Cossée, Mireille; Bergougnoux, Anne; Kalatzis, Vasiliki; Rossel, Mireille; Roux, Anne-Françoise.
  • Vaché C; Molecular Genetics Laboratory, Univ Montpellier, CHU Montpellier, Montpellier, France. christel.vache@inserm.fr.
  • Cubedo N; Institute for Neurosciences of Montpellier (INM), Univ Montpellier, Inserm, Montpellier, France. christel.vache@inserm.fr.
  • Mansard L; MMDN, Univ Montpellier, EPHE, INSERM, Montpellier, France.
  • Sarniguet J; Molecular Genetics Laboratory, Univ Montpellier, CHU Montpellier, Montpellier, France.
  • Baux D; MMDN, Univ Montpellier, EPHE, INSERM, Montpellier, France.
  • Faugère V; Molecular Genetics Laboratory, Univ Montpellier, CHU Montpellier, Montpellier, France.
  • Baudoin C; Institute for Neurosciences of Montpellier (INM), Univ Montpellier, Inserm, Montpellier, France.
  • Moclyn M; Molecular Genetics Laboratory, Univ Montpellier, CHU Montpellier, Montpellier, France.
  • Touraine R; Molecular Genetics Laboratory, Univ Montpellier, CHU Montpellier, Montpellier, France.
  • Lina-Granade G; Molecular Genetics Laboratory, Univ Montpellier, CHU Montpellier, Montpellier, France.
  • Cossée M; Department of Genetics, CHU Hopital Nord, Saint-Etienne, France.
  • Bergougnoux A; Department of Oto-Rhino-Laryngology, Head and Neck Surgery, Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon University Hospital, Lyon, France.
  • Kalatzis V; Molecular Genetics Laboratory, Univ Montpellier, CHU Montpellier, Montpellier, France.
  • Rossel M; PhyMedExp, Univ Montpellier, INSERM, CNRS, Montpellier, France.
  • Roux AF; Molecular Genetics Laboratory, Univ Montpellier, CHU Montpellier, Montpellier, France.
Eur J Hum Genet ; 31(7): 834-840, 2023 07.
Article en En | MEDLINE | ID: mdl-37173411

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sordera / Pérdida Auditiva / Pérdida Auditiva Sensorineural Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals Idioma: En Año: 2023 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sordera / Pérdida Auditiva / Pérdida Auditiva Sensorineural Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals Idioma: En Año: 2023 Tipo del documento: Article