Article
Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene.
Molecular genetics and metabolism - 1 Feb 2001
Cole D E, Vieth R, Trang H M, Wong B Y, Hendy G N, Rubin L A
Abstract excerpt
Serum calcium is under tight physiological control, but it is also a quantitative trait with substantial genetic regulation. Mutations of the CASR gene cause familial hypocalciuric hypercalcemia or autosomal dominant hypoparathyroidism, depending on whether they decrease or increase, respectively, ligand binding to the receptor protein. We described an association between ionized calcium and a common polymorphism...
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