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

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

Abstract 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...

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Main Authors: Bérengère Koehl, Cédric Vrignaud, Mahmoud Mikdar, Thankam S Nair, Lucy Yang, Seyve Landry, Guy Laiguillon, Claudine Giroux‐Lathuile, Sophie Anselme‐Martin, Hanane El Kenz, Olivier Hermine, Narla Mohandas, Jean Pierre Cartron, Yves Colin, Olivier Detante, Raphaël Marlu, Caroline Le Van Kim, Thomas E Carey, Slim Azouzi, Thierry Peyrard
Format: Article
Language:English
Published: Springer Nature 2023-01-01
Series:EMBO Molecular Medicine
Subjects:
blood group antigen
hearing impairment
red blood cells
SLC44A2
transfusion
Online Access:https://doi.org/10.15252/emmm.202216320
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