Association of the Recurrent ATP1 A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function
复发性 ATP1 A1 变异体 p.Gly549Arg 与中间型 CMT 和 Na,K-ATPase 功能丧失相关
期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000200309
Spontarelli Fruit, Kerri; Olivera, J Fernando; Colmano, Nicolas; Bird, Shawn J; McCray, Brett A; Yano, Sho T; Scherer, Steven S; Artigas, Pablo