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CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels

Archive ouverte | Andrini, Olga | CCSD

International audience. ClC-Kb, a member of the ClC family of Cl(-) channels/transporters, plays a major role in the absorption of NaCl in the distal nephron. CLCNKB mutations cause Bartter syndrome type 3, a heredi...

ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3

Archive ouverte | Andrini, Olga | CCSD

International audience. The mutations in the CLCNKB gene encoding the ClC-Kb chloride channel are responsible for Bartter syndrome type 3, one of the four variants of Bartter syndrome in the genetically based nomenc...

Clinical and Genetic Spectrum of Bartter Syndrome Type 3

Archive ouverte | Seys, Elsa | CCSD

International audience

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