A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).

Gorvin, Caroline M

A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2). [electronic resource] - Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 06 2016 - 1200-6 p. digital

Publication Type: Case Reports; Journal Article

1523-4681

10.1002/jbmr.2778 doi


Aged
Amino Acid Substitution
Calcium Signaling--genetics
Female
Fibroblast Growth Factor-23
GTP-Binding Protein alpha Subunits--chemistry
HEK293 Cells
Humans
Hypercalcemia--genetics
Mutation, Missense
Protein Domains
Receptors, Calcium-Sensing--genetics