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Article

Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis.

Kidney & blood pressure research - 1 Jan 2018

Park Eujin, Cho Myung Hyun, Hyun Hye Sun, Shin Jae Il, Lee Joo Hoon, Park Young Seo, Choi Hyun Jin, Kang Hee Gyung, Cheong Hae Il

Abstract excerpt

BACKGROUND/AIMS: Primary distal renal tubular acidosis (dRTA) in children is a rare genetic disorder, and three causative mutated genes have been identified: SLC4A1, ATP6V1B1, and ATP6V0A4. We analyzed the prevalence and phenotypic differences of genetic mutations in children with dRTA. METHODS: A total of 17 children with dRTA were enrolled in the study. All patients underwent genetic testing for all three...

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Share to Acidosis, Renal Tubular
Share to Anion Exchange Protein 1, Erythrocyte

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hearing Loss, Sensorineural

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Source

Identifiers

PMID: 29627839
DOI: 10.1159/000488698

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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