Genotype and phenotype correlation of calcium-sensing receptor variants
- PMID: 17522693
- DOI: 10.1038/sj.ki.5002246
Genotype and phenotype correlation of calcium-sensing receptor variants
Abstract
Mutations of the calcium-sensing receptor (CaR) gene give rise to disorders of renal calcium excretion. It is now demonstrated that even common variants of CaR can cause alteration in tissue sensitivity to extracellular calcium and are associated with primary hypercalciuria. Agents targeting these functional domains may well be an option for the management of hypercalciuria and renal stones.
Comment on
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R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria.Kidney Int. 2007 Jun;71(11):1155-62. doi: 10.1038/sj.ki.5002156. Epub 2007 Feb 28. Kidney Int. 2007. PMID: 17332735
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