| 000 | 01809 a2200553 4500 | ||
|---|---|---|---|
| 005 | 20250516100640.0 | ||
| 264 | 0 | _c20121214 | |
| 008 | 201212s 0 0 eng d | ||
| 022 | _a1932-6203 | ||
| 024 | 7 |
_a10.1371/journal.pone.0038264 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHuyghe, Aurélia | |
| 245 | 0 | 0 |
_aDevelopmental splicing deregulation in leukodystrophies related to EIF2B mutations. _h[electronic resource] |
| 260 |
_bPloS one _c2012 |
||
| 300 |
_ae38264 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aBiopsy |
| 650 | 0 | 4 | _aCase-Control Studies |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aEukaryotic Initiation Factor-2B _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFibroblasts _xmetabolism |
| 650 | 0 | 4 | _aGene Expression Profiling |
| 650 | 0 | 4 | _aGene Expression Regulation |
| 650 | 0 | 4 |
_aGlial Fibrillary Acidic Protein _xgenetics |
| 650 | 0 | 4 |
_aHereditary Central Nervous System Demyelinating Diseases _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aMyelin Sheath _xchemistry |
| 650 | 0 | 4 | _aOligonucleotide Array Sequence Analysis |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRNA, Messenger _xmetabolism |
| 650 | 0 | 4 | _aTranscription, Genetic |
| 700 | 1 | _aHorzinski, Laetitia | |
| 700 | 1 | _aHénaut, Alain | |
| 700 | 1 | _aGaillard, Marina | |
| 700 | 1 | _aBertini, Enrico | |
| 700 | 1 | _aSchiffmann, Raphael | |
| 700 | 1 | _aRodriguez, Diana | |
| 700 | 1 | _aDantal, Yann | |
| 700 | 1 | _aBoespflug-Tanguy, Odile | |
| 700 | 1 | _aFogli, Anne | |
| 773 | 0 |
_tPloS one _gvol. 7 _gno. 6 _gp. e38264 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1371/journal.pone.0038264 _zAvailable from publisher's website |
| 999 |
_c21898165 _d21898165 |
||