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Article

Characterization of renal chloride channel (CLCN5) mutations in Dent's disease.

Journal of the American Society of Nephrology : JASN - 1 Aug 2000

Yamamoto Katsusuke, Cox Jeremy P D T, Friedrich Thomas, Christie Paul T, Bald Martin, Houtman Peter N, Lapsley Marta J, Patzer Ludwig, Tsimaratos Michel, Van't Hoff William G, Yamaoka Kanji, Jentsch Thomas J, Thakker Rajesh V

Abstract excerpt

Dent's disease is an X-linked renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and renal failure. The disease is caused by mutations in a renal chloride channel gene, CLCN5, which encodes a 746 amino acid protein (CLC-5), with 12 to 13 transmembrane domains. In this study, an additional six unrelated patients with Dent's disease were...

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Source

Identifiers

PMID: 10906159
DOI: 10.1681/ASN.V1181460

Genes

CLC
CLCN5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Characterization of renal chloride channel (CLCN5) mutations in Dent's disease.PMID 10906159Read ↗

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Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant.Semantic proximity Read ↗

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