R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria.
Vezzoli G, Terranegra A, Arcidiacono T, Biasion R, Coviello D, Syren ML, Paloschi V, Giannini S, Mignogna G, Rubinacci A, Ferraretto A, Cusi D, Bianchi G, Soldati L.
Vezzoli G, et al. Among authors: bianchi g.
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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