Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability
ATP1A1 种系新生突变导致肾性低镁血症、难治性癫痫和智力障碍
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.10.004
Karl P Schlingmann, Sascha Bandulik, Cherry Mammen, Maja Tarailo-Graovac, Rikke Holm, Matthias Baumann, Jens König, Jessica J Y Lee, Britt Drögemöller, Katrin Imminger, Bodo B Beck, Janine Altmüller, Holger Thiele, Siegfried Waldegger, William Van't Hoff, Robert Kleta, Richard Warth, Clara D M van K
