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Article

Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.

Human molecular genetics - 1 Aug 1997

Lloyd S E, Gunther W, Pearce S H, Thomson A, Bianchi M L, Bosio M, Craig I W, Fisher S E, Scheinman S J, Wrong O, Jentsch T J, Thakker R V

Abstract excerpt

Mutations of the renal-specific chloride channel (CLCN5) gene, which is located on chromosome Xp11.22, are associated with hypercalciuric nephrolithiasis (kidney stones) in the Northern European and Japanese populations. CLCN5 encodes a 746 amino acid channel (CLC-5) that has approximately 12 tra...

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Source

Identifiers

PMID: 9259268
DOI: 10.1093/hmg/6.8.1233

Genes

CLCN5
CLC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-9259268-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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