000 01879 a2200577 4500
005 20250516095403.0
264 0 _c20130211
008 201302s 0 0 eng d
022 _a1435-232X
024 7 _a10.1038/jhg.2012.71
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aShimojima, Keiko
245 0 0 _aReduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.
_h[electronic resource]
260 _bJournal of human genetics
_cSep 2012
300 _a580-6 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aAnimals
650 0 4 _aBase Sequence
650 0 4 _aBrain
_xpathology
650 0 4 _aCell Line, Tumor
650 0 4 _aChild, Preschool
650 0 4 _aChromosome Breakpoints
650 0 4 _aFemale
650 0 4 _aGene Duplication
650 0 4 _aGene Expression Regulation
650 0 4 _aGenotype
650 0 4 _aHumans
650 0 4 _aInduced Pluripotent Stem Cells
_xmetabolism
650 0 4 _aKruppel-Like Factor 4
650 0 4 _aMagnetic Resonance Imaging
650 0 4 _aMale
650 0 4 _aMice
650 0 4 _aMiddle Aged
650 0 4 _aMutation
650 0 4 _aMyelin Proteolipid Protein
_xgenetics
650 0 4 _aPelizaeus-Merzbacher Disease
_xdiagnosis
700 1 _aInoue, Takahito
700 1 _aImai, Yuki
700 1 _aArai, Yasuhiro
700 1 _aKomoike, Yuta
700 1 _aSugawara, Midori
700 1 _aFujita, Takako
700 1 _aIdeguchi, Hiroshi
700 1 _aYasumoto, Sawa
700 1 _aKanno, Hitoshi
700 1 _aHirose, Shinichi
700 1 _aYamamoto, Toshiyuki
773 0 _tJournal of human genetics
_gvol. 57
_gno. 9
_gp. 580-6
856 4 0 _uhttps://doi.org/10.1038/jhg.2012.71
_zAvailable from publisher's website
999 _c21862655
_d21862655