000 01638 a2200493 4500
005 20250515201422.0
264 0 _c20100317
008 201003s 0 0 eng d
022 _a1932-6203
024 7 _a10.1371/journal.pone.0008318
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aHorzinski, Laetitia
245 0 0 _aEukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders.
_h[electronic resource]
260 _bPloS one
_cDec 2009
300 _ae8318 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aAge of Onset
650 0 4 _aAging
_xpathology
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 _aGuanine Nucleotide Exchange Factors
_xgenetics
650 0 4 _aHereditary Central Nervous System Demyelinating Diseases
_xdiagnosis
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aLymphocytes
_xmetabolism
650 0 4 _aMiddle Aged
650 0 4 _aMutation
_xgenetics
650 0 4 _aROC Curve
650 0 4 _aYoung Adult
700 1 _aHuyghe, Aurélia
700 1 _aCardoso, Marie-Céleste
700 1 _aGonthier, Céline
700 1 _aOuchchane, Lemlih
700 1 _aSchiffmann, Raphael
700 1 _aBlanc, Pierre
700 1 _aBoespflug-Tanguy, Odile
700 1 _aFogli, Anne
773 0 _tPloS one
_gvol. 4
_gno. 12
_gp. e8318
856 4 0 _uhttps://doi.org/10.1371/journal.pone.0008318
_zAvailable from publisher's website
999 _c19398049
_d19398049