Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
ATP1A1基因突变导致显性夏科-马里-图斯病2型
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.01.023
Lassuthova, Petra; Rebelo, Adriana P; Ravenscroft, Gianina; Lamont, Phillipa J; Davis, Mark R; Manganelli, Fiore; Feely, Shawna M; Bacon, Chelsea; Brožková, Dana Šafka; Haberlova, Jana; Mazanec, Radim; Tao, Feifei; Saghira, Cima; Abreu, Lisa; Courel, Steve; Powell, Eric; Buglo, Elena; Bis, Dana M; Baxter, Megan F; Ong, Royston W; Marns, Lorna; Lee, Yi-Chung; Bai, Yunhong; Isom, Daniel G; Barro-Soria, René; Chung, Ki W; Scherer, Steven S; Larsson, H Peter; Laing, Nigel G; Choi, Byung-Ok; Seeman, Pavel; Shy, Michael E; Santoro, Lucio; Zuchner, Stephan