A gain-of-function mutation in ATP6V0A4 drives primary distal renal tubular alkalosis with enhanced V-ATPase activity.
ATP6V0A4 的功能获得性突变导致原发性远端肾小管碱中毒，并伴有 V-ATPase 活性增强
期刊:Journal of Clinical Investigation
影响因子:13.6
doi:10.1172/JCI188807
Peng Si-Qi, Wu Qian-Qian, Wang Wan-Yi, Zhang Yi-Lin, Zhou Rui-Ning, Liao Jun, Wei Jin-Xuan, Yang Yan, Shi Wen, Yang Jun-Lan, Wang Xiao-Xu, Wei Zhi-Yuan, Sun Jia-Xuan, Huang Lu, Fan Hong, Cai Hui, Wang Cheng-Kun, Li Xin-Hua, Li Ting-Song, Liu Bi-Cheng, Zhang Xiao-Liang, Wang Bin
