Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family with Autosomal Dominant Hypocalcemia Type 2 (ADH2)

J Bone Miner Res June; 31(6):1167-1176 . doi: 10.1002/jbmr.2797. Epub 2016 Jan 28.

In conclusion, our identification of a novel germline gain-of-function Gα11 mutation, Val340Met, causing ADH2 demonstrates the importance of the Gα11 C-terminal region for G-protein function and CaSR signal transduction.

Autor: Piret SE, Gorvin CM, Pagnamenta AT, Howles SA, Cranston T, Rust N, Nesbit MA, Glaser B, Taylor JC, Buchs AE, Hannan FM, Thakker RV.
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