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Article

Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis.

Clinical genetics - 1 Oct 2021

Guo Wencong, Song Qijing, Zhang Ruixiao, Xin Qing, Liu Zhiying, Lang Yanhua, Zhao Xiangzhong, Shao Leping

Abstract excerpt

The aim of this study was to analyze the genetic variants of 51 Chinese patients with distal renal tubular acidosis (dRTA) and explore the correlation between their genotype and phenotype. Eight variants of SLC4A1, 19 variants of ATP6V0A4, and 16 variants of ATP6V1B1 have been identified, and of which 14 were novel ones. Eleven patients with autosomal dominant dRTA, and four patients with autosomal recessive dRTA...

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Identifiers

PMID: 34159584
DOI: 10.1111/cge.14011

Provenance

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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