Article
No evidence for point mutations of the calcium-sensing receptor in familial idiopathic hypercalciuria.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Dec 2001
Lerolle N, Coulet F, Lantz B, Paillard F, Houillier P, Soubrier F, Gattegno B, Jeunemaitre X, Ronco P, Rondeau E
Abstract excerpt
BACKGROUND: Idiopathic hypercalciuria (IH) is frequently associated with nephrolithiasis. As 40% of patients have a positive familial history of IH, an autosomal dominant mode of inheritance has been suggested. Numerous genes have been studied in this regard but none have been found to be linked to IH. Mutation of the calcium-sensing receptor (CaR) has never been studied. Therefore, we conducted a study to detect...
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