| 000 | 01889 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250517075212.0 | ||
| 264 | 0 | _c20171221 | |
| 008 | 201712s 0 0 eng d | ||
| 022 | _a1523-4681 | ||
| 024 | 7 |
_a10.1002/jbmr.2797 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPiret, Sian E | |
| 245 | 0 | 0 |
_aIdentification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2). _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 |
_a1207-14 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAged |
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 |
_aGTP-Binding Protein alpha Subunits _xchemistry |
| 650 | 0 | 4 | _aHEK293 Cells |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypercalciuria _xgenetics |
| 650 | 0 | 4 |
_aHypocalcemia _xgenetics |
| 650 | 0 | 4 |
_aHypoparathyroidism _xcongenital |
| 650 | 0 | 4 | _aIran |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aProtein Structure, Secondary |
| 650 | 0 | 4 |
_aReceptors, Calcium-Sensing _xgenetics |
| 650 | 0 | 4 | _aSignal Transduction |
| 700 | 1 | _aGorvin, Caroline M | |
| 700 | 1 | _aPagnamenta, Alistair T | |
| 700 | 1 | _aHowles, Sarah A | |
| 700 | 1 | _aCranston, Treena | |
| 700 | 1 | _aRust, Nigel | |
| 700 | 1 | _aNesbit, M Andrew | |
| 700 | 1 | _aGlaser, Ben | |
| 700 | 1 | _aTaylor, Jenny C | |
| 700 | 1 | _aBuchs, Andreas E | |
| 700 | 1 | _aHannan, Fadil M | |
| 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. 1207-14 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/jbmr.2797 _zAvailable from publisher's website |
| 999 |
_c25677024 _d25677024 |
||