| 000 | 01560 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250517212034.0 | ||
| 264 | 0 | _c20190614 | |
| 008 | 201906s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.23534 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMignon-Ravix, Cécile | |
| 245 | 0 | 0 |
_aAbnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst. _h[electronic resource] |
| 260 |
_bHuman mutation _c07 2018 |
||
| 300 |
_a934-938 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 |
_aEpilepsies, Myoclonic _xgenetics |
| 650 | 0 | 4 |
_aEpileptic Syndromes _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 |
_aSpasms, Infantile _xgenetics |
| 650 | 0 | 4 |
_aUbiquitin-Activating Enzymes _xgenetics |
| 650 | 0 | 4 | _aExome Sequencing |
| 700 | 1 | _aMilh, Mathieu | |
| 700 | 1 | _aKaiser, Charlotte Sophia | |
| 700 | 1 | _aDaniel, Jens | |
| 700 | 1 | _aRiccardi, Florence | |
| 700 | 1 | _aCacciagli, Pierre | |
| 700 | 1 | _aNagara, Majdi | |
| 700 | 1 | _aBusa, Tiffany | |
| 700 | 1 | _aLiebau, Eva | |
| 700 | 1 | _aVillard, Laurent | |
| 773 | 0 |
_tHuman mutation _gvol. 39 _gno. 7 _gp. 934-938 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.23534 _zAvailable from publisher's website |
| 999 |
_c28295444 _d28295444 |
||