Diversity of functional alterations of the ClC‐5 exchanger in the region of the proton glutamate in patients with Dent disease 1
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DOI: 10.1002/humu.24184
Abstract: Mutations in the CLCN5 gene encoding the 2Cl−/1H+ exchanger ClC‐5 are associated with Dent disease 1, an inherited renal disorder characterized by low‐molecular‐weight (LMW) proteinuria and hypercalciuria. In the kidney, ClC‐5 is mostly localized in… read more here.
Keywords: proton glutamate; region; patients dent; dent disease ... See more keywords