Associated Papers
The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 Phenotype.
Arnous MG et al.
Kidney International Reports, 2023
Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease.
Ye Q et al.
Clinical Genetics, 2020
Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.
Li F et al.
The Journal of Pediatrics, 2016
[Clinical and genetic analysis of Dent disease in 4 Chinese children].
Jian S et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing.
Grand T et al.
Kidney International, 2009
ClC-5: role in endocytosis in the proximal tubule.
Wang Y et al.
American Journal of Physiology. Renal Physiology, 2005
Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship.
Wu F et al.
Kidney International, 2003
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