Identification of novel pathogenic mutations in ATP6V0A4 associated with distal renal tubular acidosis and analysis of wild-type expression in glomerular disease.
鉴定与远端肾小管酸中毒相关的 ATP6V0A4 中的新型致病突变,并分析其在肾小球疾病中的野生型表达
期刊:Renal Failure
影响因子:3
doi:10.1080/0886022X.2025.2536729
Jiang Yaru, Ren Menglu, Gan Chun, Yang Qing, Jiang Huimin, Xiao Han, Zhou Xindi, Chen Wanbing, Yang Xuejun, Yang Baohui, Chen Yaxi, Wang Mo, Yang Haiping, Jiang Wei, Li Qiu