| 000 | 01784 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250516195608.0 | ||
| 264 | 0 | _c20140610 | |
| 008 | 201406s 0 0 eng d | ||
| 022 | _a1479-683X | ||
| 024 | 7 |
_a10.1530/EJE-13-0737 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPolat, Seher | |
| 245 | 0 | 0 |
_aCharacterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency. _h[electronic resource] |
| 260 |
_bEuropean journal of endocrinology _cMay 2014 |
||
| 300 |
_a697-706 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAdrenal Hyperplasia, Congenital _xgenetics |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aComputational Biology |
| 650 | 0 | 4 | _aExpert Systems |
| 650 | 0 | 4 | _aFamily Health |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aHEK293 Cells |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aKinetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 |
_aMutant Proteins _xchemistry |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aProtein Conformation |
| 650 | 0 | 4 |
_aRecombinant Proteins _xchemistry |
| 650 | 0 | 4 | _aSeverity of Illness Index |
| 650 | 0 | 4 |
_aSteroid 11-beta-Hydroxylase _xchemistry |
| 700 | 1 | _aKulle, Alexandra | |
| 700 | 1 | _aKaraca, Züleyha | |
| 700 | 1 | _aAkkurt, Ilker | |
| 700 | 1 | _aKurtoglu, Selim | |
| 700 | 1 | _aKelestimur, Fahrettin | |
| 700 | 1 | _aGrötzinger, Joachim | |
| 700 | 1 | _aHolterhus, Paul-Martin | |
| 700 | 1 | _aRiepe, Felix G | |
| 773 | 0 |
_tEuropean journal of endocrinology _gvol. 170 _gno. 5 _gp. 697-706 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1530/EJE-13-0737 _zAvailable from publisher's website |
| 999 |
_c23553794 _d23553794 |
||