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Article

Evidence for genetic heterogeneity in Dent's disease.

Kidney international - 1 May 2004

Hoopes Richard R, Raja Khalid M, Koich April, Hueber Paul, Reid Robert, Knohl Stephen J, Scheinman Steven J

Abstract excerpt

BACKGROUND: Dent's disease (X-linked nephrolithiasis) is a proximal tubulopathy that has been consistently associated with inactivating mutations in the CLCN5 gene encoding the ClC-5 chloride channel expressed in tubular epithelial cells. METHODS: We performed mutation analysis of the coding region of CLCN5 by DNA sequencing in 32 unrelated males, all of whom met the following three clinical criteria for the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15086899
DOI: 10.1111/j.1523-1755.2004.00571.x

Genes

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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Evidence for genetic heterogeneity in Dent's disease.PMID 15086899Read ↗

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

Genetic Analysis of Dent's Disease and Functional Research of CLCN5 Mutations.Semantic proximity Read ↗

Renal chloride channel, CLCN5, mutations in Dent's disease.Semantic proximity Read ↗

Dent's disease: clinical features and molecular basis.Semantic proximity Read ↗

The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 PhenotypeSemantic proximity Read ↗

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

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

Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.Semantic proximity Read ↗

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

A novel likely pathogenic CLCN5 variant in Dent’s diseaseSemantic proximity Read ↗

Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.Semantic proximity Read ↗

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