Identification of novel pathogenic mutations in ATP6V0A4 associated with distal renal tubular acidosis and analysis of wild-type expression in glomerular disease

Identification of novel pathogenic mutations in ATP6V0A4 associated with distal renal tubular acidosis and analysis of wild-type expression in glomerular disease

Distal renal tubular acidosis (dRTA) is a rare renal disorder caused by genetic mutations or secondary factors. If untreated, it can result in a significant electrolyte imbalance and progressive chronic kidney disease (CKD). This study investigated the key genes involved in renal tubular acid-base r...

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Main Authors: Yaru Jiang, Menglu Ren, Chun Gan, Qing Yang, Huimin Jiang, Han Xiao, Xindi Zhou, Wanbing Chen, Xuejun Yang, Baohui Yang, Yaxi Chen, Mo Wang, Haiping Yang, Wei Jiang, Qiu Li
Format: Article
Language:English
Published: Taylor & Francis Group 2025-12-01
Series:Renal Failure
Subjects:
ATP6V0A4
dRTA
CKD
DKD
Online Access:https://www.tandfonline.com/doi/10.1080/0886022X.2025.2536729
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https://www.tandfonline.com/doi/10.1080/0886022X.2025.2536729

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