Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

por Mendoza-Ferreira, Natalia, Coutelier, Marie, Janzen, Eva, Hosseinibarkooie, Seyyedmohsen, Löhr, Heiko, Schneider, Svenja, Milbradt, Janine, Karakaya, Mert, Riessland, Markus, Pichlo, Christian, Torres-Benito, Laura, Singleton, Andrew, Zuchner, Stephan, Brice, Alexis, Durr, Alexandra, Hammerschmidt, Matthias, Stevanin, Giovanni, Wirth, Brunhilde
Publicado 2018