Article
Calcium-sensing receptor sequencing in 21 patients with idiopathic or familial parathyroid disorder: pitfalls and characterization of a novel I32 V loss-of-function mutation.
Endocrine - 1 Mar 2015
Szalat Auryan, Shahar Michal, Shpitzen Shoshana, Nachmias Boaz, Munter Gabriel, Gillis David, Durst Ronen, Mevorach Dror, Leitersdorf Eran, Meiner Vardiella, Rosen Haim
Abstract excerpt
The calcium-sensing receptor (CaSR) is a G-protein-coupled receptor with a crucial role in calcium homeostasis. Mutations in the CaSR gene may lead to specific parathyroid disorders due to either gain-of-function (autosomal dominant hypercalciuric hypocalcemia; ADHH) or loss-of-function (familial hypocalciuric hypercalcemia; FHH). Our aim was to evaluate CaSR mutations as a cause of disease in selected patients....
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