Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia
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The calcium-sensing receptor (CaSR) is a G-protein-coupled receptor that plays an essential role in maintaining calcium homeostasis. In the present study, we analyzed the CaSR gene in a Korean family with familial hypocalciuric hypercalcemia (FHH). Genetic stu... ...
