000 01757 a2200553 4500
005 20250516032813.0
264 0 _c20111219
008 201112s 0 0 eng d
022 _a1364-6753
024 7 _a10.1007/s10048-011-0284-7
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aMatsukawa, Takashi
245 0 0 _aAdult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.
_h[electronic resource]
260 _bNeurogenetics
_cAug 2011
300 _a259-61 p.
_bdigital
500 _aPublication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
650 0 4 _aAdult
650 0 4 _aAge of Onset
650 0 4 _aAmino Acid Substitution
650 0 4 _aBase Sequence
650 0 4 _aEukaryotic Initiation Factor-2B
_xgenetics
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aLeukoencephalopathies
_xepidemiology
650 0 4 _aMale
650 0 4 _aMiddle Aged
650 0 4 _aMutation, Missense
_xphysiology
650 0 4 _aNerve Degeneration
_xgenetics
650 0 4 _aProtein Isoforms
_xgenetics
700 1 _aWang, Xuemin
700 1 _aLiu, Rui
700 1 _aWortham, Noel C
700 1 _aOnuki, Yuko
700 1 _aKubota, Akatsuki
700 1 _aHida, Ayumi
700 1 _aKowa, Hisatomo
700 1 _aFukuda, Yoko
700 1 _aIshiura, Hiroyuki
700 1 _aMitsui, Jun
700 1 _aTakahashi, Yuji
700 1 _aAoki, Shigeki
700 1 _aTakizawa, Shunya
700 1 _aShimizu, Jun
700 1 _aGoto, Jun
700 1 _aProud, Christopher G
700 1 _aTsuji, Shoji
773 0 _tNeurogenetics
_gvol. 12
_gno. 3
_gp. 259-61
856 4 0 _uhttps://doi.org/10.1007/s10048-011-0284-7
_zAvailable from publisher's website
999 _c20751120
_d20751120