000 01576 a2200409 4500
005 20250517072430.0
264 0 _c20171221
008 201712s 0 0 eng d
022 _a1523-4681
024 7 _a10.1002/jbmr.2778
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aGorvin, Caroline M
245 0 0 _aA G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).
_h[electronic resource]
260 _bJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
_c06 2016
300 _a1200-6 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAged
650 0 4 _aAmino Acid Substitution
650 0 4 _aCalcium Signaling
_xgenetics
650 0 4 _aFemale
650 0 4 _aFibroblast Growth Factor-23
650 0 4 _aGTP-Binding Protein alpha Subunits
_xchemistry
650 0 4 _aHEK293 Cells
650 0 4 _aHumans
650 0 4 _aHypercalcemia
_xgenetics
650 0 4 _aMutation, Missense
650 0 4 _aProtein Domains
650 0 4 _aReceptors, Calcium-Sensing
_xgenetics
700 1 _aCranston, Treena
700 1 _aHannan, Fadil M
700 1 _aRust, Nigel
700 1 _aQureshi, Asjid
700 1 _aNesbit, M Andrew
700 1 _aThakker, Rajesh V
773 0 _tJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
_gvol. 31
_gno. 6
_gp. 1200-6
856 4 0 _uhttps://doi.org/10.1002/jbmr.2778
_zAvailable from publisher's website
999 _c25597972
_d25597972