| 000 | 01351 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250516074536.0 | ||
| 264 | 0 | _c20120409 | |
| 008 | 201204s 0 0 eng d | ||
| 022 | _a1879-0038 | ||
| 024 | 7 |
_a10.1016/j.gene.2011.12.047 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAlsalem, Ahmed | |
| 245 | 0 | 0 |
_aVanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype. _h[electronic resource] |
| 260 |
_bGene _cApr 2012 |
||
| 300 |
_a141-3 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAdrenal Insufficiency _xmetabolism |
| 650 | 0 | 4 |
_aAdrenoleukodystrophy _xdiagnosis |
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 |
_aBrain _xpathology |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aEukaryotic Initiation Factor-2B _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLeukoencephalopathies _xdiagnosis |
| 650 | 0 | 4 |
_aMagnetic Resonance Imaging _xmethods |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 | _aMolecular Conformation |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPhenotype |
| 700 | 1 | _aShaheen, Ranad | |
| 700 | 1 | _aAlkuraya, Fowzan S | |
| 773 | 0 |
_tGene _gvol. 496 _gno. 2 _gp. 141-3 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.gene.2011.12.047 _zAvailable from publisher's website |
| 999 |
_c21498869 _d21498869 |
||