Associated Papers
Diversity of functional alterations of the ClC-5 exchanger in the region of the proton glutamate in patients with Dent disease 1.
Sakhi I et al.
Human Mutation, 2021
Cl- and H+ coupling properties and subcellular localizations of wildtype and disease-associated variants of the voltage-gated Cl-/H+ exchanger ClC-5.
Chang MH et al.
The Journal of Biological Chemistry, 2020
A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification.
Bignon Y et al.
Human Mutation, 2018
Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients.
Tang X et al.
Physiological Reports, 2016
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Mansour-Hendili L et al.
Human Mutation, 2015
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