A gain-of-function mutation in ATP6V0A4 drives primary distal renal tubular alkalosis with enhanced V-ATPase activity.
Peng SQ, Wu QQ, Wang WY, Zhang YL, Zhou RN, Liao J, Wei JX, Yang Y, Shi W, Yang JL, Wang XX, Wei ZY, Sun JX, Huang L, Fan H, Cai H, Wang CK, Li XH, Li TS, Liu BC, Zhang XL, Wang B.
Peng SQ, et al. Among authors: liu bc.
J Clin Invest. 2025 Apr 29;135(13):e188807. doi: 10.1172/JCI188807. eCollection 2025 Jul 1.
J Clin Invest. 2025.
PMID: 40299568
Free PMC article.