| 000 | 01756 a2200565 4500 | ||
|---|---|---|---|
| 005 | 20250516124135.0 | ||
| 264 | 0 | _c20130222 | |
| 008 | 201302s 0 0 eng d | ||
| 022 | _a1546-1718 | ||
| 024 | 7 |
_a10.1038/ng.2492 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aNesbit, M Andrew | |
| 245 | 0 | 0 |
_aMutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. _h[electronic resource] |
| 260 |
_bNature genetics _cJan 2013 |
||
| 300 |
_a93-7 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAdaptor Protein Complex 2 _xchemistry |
| 650 | 0 | 4 |
_aAdaptor Protein Complex sigma Subunits _xchemistry |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 |
_aCalcium _xmetabolism |
| 650 | 0 | 4 | _aConserved Sequence |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypercalcemia _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aProtein Conformation |
| 650 | 0 | 4 |
_aReceptors, Calcium-Sensing _xgenetics |
| 650 | 0 | 4 | _aSequence Alignment |
| 700 | 1 | _aHannan, Fadil M | |
| 700 | 1 | _aHowles, Sarah A | |
| 700 | 1 | _aReed, Anita A C | |
| 700 | 1 | _aCranston, Treena | |
| 700 | 1 | _aThakker, Clare E | |
| 700 | 1 | _aGregory, Lorna | |
| 700 | 1 | _aRimmer, Andrew J | |
| 700 | 1 | _aRust, Nigel | |
| 700 | 1 | _aGraham, Una | |
| 700 | 1 | _aMorrison, Patrick J | |
| 700 | 1 | _aHunter, Steven J | |
| 700 | 1 | _aWhyte, Michael P | |
| 700 | 1 | _aMcVean, Gil | |
| 700 | 1 | _aBuck, David | |
| 700 | 1 | _aThakker, Rajesh V | |
| 773 | 0 |
_tNature genetics _gvol. 45 _gno. 1 _gp. 93-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ng.2492 _zAvailable from publisher's website |
| 999 |
_c22330289 _d22330289 |
||