000 | 00978 a2200301 4500 | ||
---|---|---|---|
005 | 20250517034335.0 | ||
264 | 0 | _c20150619 | |
008 | 201506s 0 0 eng d | ||
022 | _a1015-8146 | ||
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aGungor, O | |
245 | 0 | 0 |
_aA rare mutation in EIF2B4 gene in an epileptic child with vanishing white matter disease: a case report. _h[electronic resource] |
260 |
_bGenetic counseling (Geneva, Switzerland) _c2015 |
||
300 |
_a41-6 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article | ||
650 | 0 | 4 |
_aEpilepsy _xgenetics |
650 | 0 | 4 |
_aEukaryotic Initiation Factor-2B _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 |
_aLeukoencephalopathies _xgenetics |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMutation |
700 | 1 | _aOzkaya, A K | |
700 | 1 | _aHirfanoglu, T | |
700 | 1 | _aDilber, C | |
700 | 1 | _aAydin, K | |
773 | 0 |
_tGenetic counseling (Geneva, Switzerland) _gvol. 26 _gno. 1 _gp. 41-6 |
|
999 |
_c24951924 _d24951924 |