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

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

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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Bibliographic Details
Main Authors:	Hannan, F, Nesbit, M, Zhang, C, Cranston, T, Curley, A, Harding, B, Fratter, C, Rust, N, Christie, P, Turner, J, Lemos, M, Bowl, MR, Bouillon, R, Brain, C, Bridges, N, Burren, C, Connell, J, Jung, H, Marks, E, McCredie, D, Mughal, Z, Rodda, C, Tollefsen, S, Brown, E, Yang, J
Format:	Journal article
Language:	English
Published:	2012

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