@article{770b1a1c411b43daaef8b0c8ea4ae639,
title = "Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites",
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 (CA2+)-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 hypo-calcaemic hupercalciuria (ADHH) for CaSR mutations and performed in vitro functional expression studies and three-dimensional modelling of mutations involving the VFTD.",
author = "Fadil Hannan and Nesbit, {M Andrew} and Chen Zhang and Treena Cranston and Curley, {Alan J} and Brian Harding and Carl Fratter and Nigel Rust and Christie, {Paul T} and Turner, {Jeremy J O} and Lemos, {Manuel C} and Bowl, {Michael R} and Roger Bouillon and Caroline Brain and Nicola Bridges and Christine Burren and John Connell and Heike Jung and Eileen Marks and David McCredie and Zulf Mughal and Rodda, {Christine P} and Sherida Tollefsen and Brown, {Edward M} and Yang, {Jenny J} and Thakker, {Rajesh V}",
year = "2012",
doi = "10.1093/hmg/dds105",
language = "English",
volume = "21",
pages = "2768 -- 2778",
journal = "Human Molecular Genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "12",
}