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Article

Genetic Analysis of Dent's Disease and Functional Research of CLCN5 Mutations.

DNA and cell biology - 1 Dec 2017

Zhang Ya, Fang Xiaoyan, Xu Hong, Shen Qian

Abstract excerpt

Dent's disease is an X-linked inherited renal disease. Patients with Dent's disease often carry mutations in genes encoding the Cl-/H+ exchanger ClC-5 and/or inositol polyphosphate 5-phosphatase (OCRL1). However, the mutations involved and the biochemical effects of these mutations are not fully understood. To characterize genetic changes in Dent's disease patients, in this study, samples from nine Chinese...

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Source

Identifiers

PMID: 29058463
DOI: 10.1089/dna.2017.3731

Genes

CLCN5
CFTR

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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