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Article

Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome.

The Journal of physiology - 15 Aug 2017

Cheng Chih-Jen, Lo Yi-Fen, Chen Jen-Chi, Huang Chou-Long, Lin Shih-Hua

Abstract excerpt

KEY POINTS: The highly variable phenotypes observed in patients with classic Bartter's syndrome (BS) remain unsatisfactorily explained. The wide spectrum of functional severity of CLCNKB mutations may contribute to the phenotypic variability, and the genotype-phenotype association has not been established. Low-level expression of the human ClC-Kb channel in mammalian cells impedes the functional study of CLCNKB...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28555925
DOI: 10.1113/JP274344
PMCID: PMC5556149

Genes

CLCNKB

Provenance

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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