A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification

Dent disease is an X‐linked recessive renal tubular disorder characterized by low‐molecular‐weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Inactivating mutations of CLCN5, the gene encoding the 2Cl−/H+ exchanger ClC‐5, have been reported in pati...

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