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Lack of the human choline transporter-like protein SLC44A2 causes hearing impairment and a rare red blood phenotype.
Koehl, Bérengère; Vrignaud, Cédric; Mikdar, Mahmoud; Nair, Thankam S; Yang, Lucy; Landry, Seyve; Laiguillon, Guy; Giroux-Lathuile, Claudine; Anselme-Martin, Sophie; El Kenz, Hanane; Hermine, Olivier; Mohandas, Narla; Cartron, Jean Pierre; Colin, Yves; Detante, Olivier; Marlu, Raphaël; Le Van Kim, Caroline; Carey, Thomas E; Azouzi, Slim; Peyrard, Thierry.
Afiliação
  • Koehl B; Université Paris Cité and Université des Antilles, INSERM, BIGR, Paris, France.
  • Vrignaud C; Department of Child Hematology, Reference Center for Sickle-Cell Disease Robert Debré University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Mikdar M; Université Paris Cité and Université des Antilles, INSERM, BIGR, Paris, France.
  • Nair TS; Université Paris Cité and Université des Antilles, INSERM, BIGR, Paris, France.
  • Yang L; Kresge Hearing Research Institute, Department of Otolaryngology/Head and Neck Surgery, University of Michigan, Ann Arbor, MI, USA.
  • Landry S; Kresge Hearing Research Institute, Department of Otolaryngology/Head and Neck Surgery, University of Michigan, Ann Arbor, MI, USA.
  • Laiguillon G; Hemostasis Laboratory, Grenoble Alpes University Hospital Grenoble, Grenoble, France.
  • Giroux-Lathuile C; Établissement Français de Sang (EFS) Ile-de-France, Centre National de Référence pour les Groupes Sanguins, Paris, France.
  • Anselme-Martin S; Etablissement Français du Sang Auvergne Rhône Alpes, Immunohematology Laboratory, Grenoble, France.
  • El Kenz H; Etablissement Français du Sang Auvergne Rhône Alpes, Immunohematology Laboratory, Grenoble, France.
  • Hermine O; Department of Transfusion, Blood Bank, CHU-Brugmann and Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.
  • Mohandas N; Université de Paris, Imagine Institute, INSERM UMR 1163, Paris, France.
  • Cartron JP; Red Cell Physiology Laboratory, New York Blood Center, New York, NY, USA.
  • Colin Y; Université Paris Cité and Université des Antilles, INSERM, BIGR, Paris, France.
  • Detante O; Université Paris Cité and Université des Antilles, INSERM, BIGR, Paris, France.
  • Marlu R; Stroke Unit, Neurology Department, Grenoble Hospital, Grenoble Institute of Neurosciences, Inserm U1216, University of Grenoble Alpes, Grenoble, France.
  • Le Van Kim C; Hemostasis Laboratory, Grenoble Alpes University Hospital Grenoble, Grenoble, France.
  • Carey TE; University Grenoble Alpes, CNRS UMR5525, TIMC, Grenoble, France.
  • Azouzi S; Université Paris Cité and Université des Antilles, INSERM, BIGR, Paris, France.
  • Peyrard T; Kresge Hearing Research Institute, Department of Otolaryngology/Head and Neck Surgery, University of Michigan, Ann Arbor, MI, USA.
EMBO Mol Med ; 15(3): e16320, 2023 03 08.
Article em En | MEDLINE | ID: mdl-36695047
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteômica / Perda Auditiva Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2023 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: Proteômica / Perda Auditiva Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article