TY  - GEN
AU  - Hannan,Fadil M
AU  - Nesbit,M Andrew
AU  - Zhang,Chen
AU  - Cranston,Treena
AU  - Curley,Alan J
AU  - Harding,Brian
AU  - Fratter,Carl
AU  - Rust,Nigel
AU  - Christie,Paul T
AU  - Turner,Jeremy J O
AU  - Lemos,Manuel C
AU  - Bowl,Michael R
AU  - Bouillon,Roger
AU  - Brain,Caroline
AU  - Bridges,Nicola
AU  - Burren,Christine
AU  - Connell,John M
AU  - Jung,Heike
AU  - Marks,Eileen
AU  - McCredie,David
AU  - Mughal,Zulf
AU  - Rodda,Christine
AU  - Tollefsen,Sherida
AU  - Brown,Edward M
AU  - Yang,Jenny J
AU  - Thakker,Rajesh V
TI  - Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites
SN  - 1460-2083
PY  - 2012///1009
KW  - Binding Sites
KW  - genetics
KW  - Calcium
KW  - chemistry
KW  - Genotype
KW  - HEK293 Cells
KW  - Humans
KW  - Hypercalcemia
KW  - Hyperparathyroidism
KW  - Hypocalcemia
KW  - Infant, Newborn
KW  - Models, Molecular
KW  - Mutation
KW  - Mutation Rate
KW  - Mutation, Missense
KW  - Protein Structure, Secondary
KW  - Protein Structure, Tertiary
KW  - Receptors, Calcium-Sensing
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/dds105
ER  -