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Article

R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria.

Kidney international - 1 Jun 2007

Vezzoli G, Terranegra A, Arcidiacono T, Biasion R, Coviello D, Syren M L, Paloschi V, Giannini S, Mignogna G, Rubinacci A, Ferraretto A, Cusi D, Bianchi G, Soldati L

Abstract excerpt

An association between the R990G polymorphism of the CaSR gene, coding for calcium-sensing receptor, and primary hypercalciuria was found in kidney stone formers. To confirm this relationship, we investigated hypercalciuric women without stones and studied the effect of CaSR gene in human embryonic kidney cells (HEK-293). We genotyped for CaSR A986S, R990G, and Q1011E polymorphisms, 119 normocalciuric and 124...

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PMID: 17332735
DOI: 10.1038/sj.ki.5002156

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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