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Lack of the human choline transporter‐like protein SLC44A2 causes hearing impairment and a rare red blood phenotype

Blood phenotypes are defined by the presence or absence of specific blood group antigens at the red blood cell (RBC) surface, due to genetic polymorphisms among individuals. The recent development of genomic and proteomic approaches enabled the characterization of several enigmatic antigens. The cho...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9994479/
https://www.ncbi.nlm.nih.gov/pubmed/36695047
http://dx.doi.org/10.15252/emmm.202216320