ea0031p1 | Bone | SFEBES2013
Hannan Fadil
, Nesbit M A
, Howles Sarah
, Babinsky Valerie
, Cranston Treena
, Rust Nigel
, Hobbs Maurine
, Heath III Hunter
, Thakker Rajesh
Loss-of-function mutations of the calcium-sensing receptor (CaSR), a G-protein-coupled receptor (GPCR), result in familial hypocalciuric hypercalcaemia (FHH), a disorder of extracellular calcium homeostasis affecting the parathyroids and kidneys. However, around 35% of FHH patients do not have CaSR mutations. A form of FHH, designated FHH2, has been mapped to chromosome 19p. The GNA11 gene, encoding G-protein α11 (Gα11), a component of the CaSR sign...