Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
双等位基因CHP1突变通过损害NHE1功能导致人类常染色体隐性遗传性共济失调。
期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000000209
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