Skip to Main Content

Paper Details

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
27
2016
ADH, ADH type 1, ADH1, ADH2, Autosomal Dominant Hypocalcemia Type 2, Autosomal dominant hypocalcemia, C, CaSR, G, G-Protein Subunit-11, G-protein, G-protein coupled receptor, G-protein subunit -11, G11, G11 C, G11 mutation, G11 mutations, G11 proteins, HEK293 cells, His403Gln, Met340, Met340 G11, TGFBI, Val340Met, calcium, hypercalciuria, hypocalcemia, hypoparathyroidism, keratoconus, serum parathyroid hormone, transforming growth factor, beta-induced, variants, wild-type
Author NameAffiliation
Sian E PiretUniversity of Oxford, Churchill Hospital
Alistair T Pagnamenta
Alistair T PagnamentaOxford NIHR Comprehensive Biomedical Research Centre
Benjamin GlaserHadassah-Hebrew University Medical Center
Jenny C Taylor
Jenny C TaylorOxford NIHR Comprehensive Biomedical Research Centre
  • 1 - 6

Datasets

Release 1.2