Article
Isolated hypercalciuria with mutation in CLCN5: relevance to idiopathic hypercalciuria.
Kidney international - 1 Jan 2000
Scheinman S J, Cox J P, Lloyd S E, Pearce S H, Salenger P V, Hoopes R R, Bushinsky D A, Wrong O, Asplin J R, Langman C B, Norden A G, Thakker R V
Abstract excerpt
UNLABELLED: Isolated hypercalciuria with mutation in CLCN5: Relevance to idiopathic hypercalciuria. BACKGROUND: Idiopathic hypercalciuria (IH) is the most common risk factor for kidney stones and often has a genetic component. Dent's disease (X-linked nephrolithiasis) is associated with mutations in the CLCN5 chloride channel gene, and low molecular weight (LMW) proteinuria was universally observed in affected...
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