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Article

Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene.

Cell death & disease - 2 Mar 2020

Chen Li, Wang Han-Lu, Zhu Yao-Bin, Jin Zhao, Huang Jian-Bin, Lin Xin-Fu, Luo Jie-Wei, Fang Zhu-Ting

Abstract excerpt

Hereditary distal renal tubular acidosis (dRTA) is a rare disease of H+ excretion defect of α-intercalated cells in renal collecting duct, caused by decreased V-ATPase function due to mutations in the ATP6V1B1 or ATP6V0A4 genes. In the present study, a genetic family with 5 members of the complete dRTA phenotype were found with distal tubule H+ secretion disorder, hypokalemia, osteoporosis, and kidney stones. A...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32123165
DOI: 10.1038/s41419-020-2354-y
PMCID: PMC7052238

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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