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Article

[Clinical features of hereditary distal renal tubular acidosis and SLC4A1 gene mutation].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Apr 2017

DU Juan, Pang Qian-Qian, Jiang Yan, Wang Ou, Li Mei, Xing Xiao-Ping, Xia Wei-Bo

Abstract excerpt

OBJECTIVE: To study the clinical features of two families with distal renal tubular acidosis (dRTA) and mutations in the pathogenic gene SLC4A1. METHODS: Family investigation, medical history collection, and measurement of biochemical parameters were performed to analyze the clinical phenotype and genetic characteristics of dRTA. Direct sequencing was used to detect SLC4A1 gene mutations. RESULTS: Three patients...

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PMID: 28407820
PMCID: PMC7389662

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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