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Article

Renal chloride channel, CLCN5, mutations in Dent's disease.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Sept 1999

Cox J P, Yamamoto K, Christie P T, Wooding C, Feest T, Flinter F A, Goodyer P R, Leumann E, Neuhaus T, Reid C, Williams P F, Wrong O, Thakker R 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. Patients with Dent's disease may also suffer from rickets and other features of the renal Fanconi Syndrome. Patients may have mutations in the X-linked renal chloride channel gene, CLCN5, which encodes a 746-amino-acid protein with 12-13...

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Share to Amino Acid Sequence
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 10469281
DOI: 10.1359/jbmr.1999.14.9.1536

Genes

CLCN5

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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Renal chloride channel, CLCN5, mutations in Dent's disease.PMID 10469281Read ↗

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