Article
Truncating mutations in the chloride/proton ClC-5 antiporter gene in Seven Jewish Israeli families with Dent's 1 disease.
Nephron. Clinical practice - 1 Jan 2009
Dinour Dganit, Davidovitz Miriam, Levin-Iaina Nomy, Lotan Danny, Cleper Roxana, Weissman Irith, Knecht Aaron, Holtzman Eli J
Abstract excerpt
Dent's disease is an X-linked hereditary renal tubular disorder characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets and progressive renal failure. About 60% of patients have mutations in the CLCN5 gene (Dent 1), which encodes a kidney-specific chloride/proton antiporter, and 15% of patients have mutations in the OCRL1 gene (Dent 2). The aim of the...
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