Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

FM, Hannan; MA, Nesbit; C, Zhang; T, Cranston; AJ, Curley; B, Harding; C, Fratter; N, Rust; PT, Christie; JJ, Turner; MC, Lemos; MR, Bowl; R, Bouillon; C, Brain; N, Bridges; C, Burren; JM, Connell; H, Jung; E, Marks; D, McCredie; Z, Mughal; C, Rodda; S, Tollefsen; EM, Brown; JJ, Yang; RV, Thakker

doi:10.1093/hmg/dds105

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Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

Shared by NobleBlocks on Mar 14, 2012 • 12:00 AM UTC

Authors:

Hannan FM

Nesbit MA

Zhang C

Abstract

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 famil...

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