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Article

Molecular and clinical studies of Dent's disease in Japan: biochemical examination and renal ultrasonography do not predict carrier state.

Clinical nephrology - 1 Apr 2004

Matsuyama T, Awazu M, Oikawa T, Inatomi J, Sekine T, Igarashi T

Abstract excerpt

BACKGROUND: Dent's disease is an X-linked renal tubular disorder characterized by low-molecular-weight-proteinuria, hypercalciuria, nephrolithiasis and renal failure. The disease is due to inactivation of a renal chloride channel gene, CLCN5. We have investigated 3 unrelated Japanese families for CLCN5 mutations and assessed the carrier mothers biochemically and ultrasonogaraphically to ascertain whether these...

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Source

Identifiers

PMID: 15125028
DOI: 10.5414/cnp61231

Genes

CLCN5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular and clinical studies of Dent's disease in Japan: biochemical examination and renal ultrasonography do not predict carrier state.PMID 15125028Read ↗

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