Associated Papers
A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification.
Bignon Y et al.
Human Mutation, 2018
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
Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.
Smith AJ et al.
American Journal of Physiology. Renal Physiology, 2009
Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.
Ludwig M et al.
Human Genetics, 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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