Article
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
Human molecular genetics - 15 Jun 2012
Hannan Fadil M, Nesbit M Andrew, Zhang Chen, Cranston Treena, Curley Alan J, Harding Brian, Fratter Carl, Rust Nigel, Christie Paul T, Turner Jeremy J O, Lemos Manuel C, Bowl Michael R, Bouillon Roger, Brain Caroline, Bridges Nicola, Burren Christine, Connell John M, Jung Heike, Marks Eileen, McCredie David, Mughal Zulf, Rodda Christine, Tollefsen Sherida, Brown Edward M, Yang Jenny J, Thakker Rajesh V
Abstract excerpt
The calcium-sensing receptor (CaSR) is a G-protein-coupled receptor that has an extracellular bilobed venus flytrap domain (VFTD) predicted to contain five calcium (Ca(2+))-binding sites. To elucidate the structure-function relationships of the VFTD, we investigated 294 unrelated probands with familial hypocalciuric hypercalcaemia (FHH), neonatal severe primary hyperparathyroidism (NSHPT) or autosomal dominant...
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