| 000 | 01641 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250515093301.0 | ||
| 264 | 0 | _c20080214 | |
| 008 | 200802s 0 0 eng d | ||
| 022 | _a0174-304X | ||
| 024 | 7 |
_a10.1055/s-2007-985902 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHartmann, H | |
| 245 | 0 | 0 |
_aNovel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease. _h[electronic resource] |
| 260 |
_bNeuropediatrics _cJun 2007 |
||
| 300 |
_a143-7 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAge of Onset |
| 650 | 0 | 4 |
_aAlanine _xgenetics |
| 650 | 0 | 4 |
_aAlexander Disease _xgenetics |
| 650 | 0 | 4 |
_aCysteine _xgenetics |
| 650 | 0 | 4 |
_aDNA Mutational Analysis _xmethods |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFrontal Lobe _xpathology |
| 650 | 0 | 4 |
_aGlial Fibrillary Acidic Protein _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aMagnetic Resonance Imaging _xmethods |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aProtein Structure, Tertiary _xgenetics |
| 650 | 0 | 4 |
_aTyrosine _xgenetics |
| 650 | 0 | 4 |
_aValine _xgenetics |
| 700 | 1 | _aHerchenbach, J | |
| 700 | 1 | _aStephani, U | |
| 700 | 1 | _aLedaal, P | |
| 700 | 1 | _aDonnerstag, F | |
| 700 | 1 | _aLücke, T | |
| 700 | 1 | _aDas, A M | |
| 700 | 1 | _aChristen, H J | |
| 700 | 1 | _aHagedorn, M | |
| 700 | 1 | _aMeins, M | |
| 773 | 0 |
_tNeuropediatrics _gvol. 38 _gno. 3 _gp. 143-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1055/s-2007-985902 _zAvailable from publisher's website |
| 999 |
_c17503195 _d17503195 |
||