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Article

Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Apr 2003

Carballo-Trujillo Irma, Garcia-Nieto Victor, Moya-Angeler Francisco J, Antón-Gamero Montserrat, Loris Cesar, Méndez-Alvarez Sebastián, Claverie-Martin Felix

Abstract excerpt

BACKGROUND: Dent's disease is characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets and eventual renal failure. The disease is caused by mutations in the X-linked chloride channel CLCN5 gene, which encodes a 746-amino-acid protein expressed...

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Source

Identifiers

PMID: 12637640
DOI: 10.1093/ndt/gfg016

Genes

CLCN5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12637640-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease.PMID 12637640Read ↗

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Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.Semantic proximity Read ↗

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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 ↗

Phenotype and genotype of Dent's disease in three Chinese boys.Semantic proximity Read ↗

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