000			02308 a2200709 4500
005			20250515224758.0
264		0	_c20100927
008			201009s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.21253 _2doi
040			_aNLM _beng _cNLM
100	1		_aZweier, Markus
245	0	0	_aMutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. _h[electronic resource]
260			_bHuman mutation _cJun 2010
300			_a722-33 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aBase Sequence
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aChromosome Deletion
650	0	4	_aChromosomes, Human, Pair 5 _xgenetics
650	0	4	_aDNA _xchemistry
650	0	4	_aDNA Mutational Analysis
650	0	4	_aFemale
650	0	4	_aGene Deletion
650	0	4	_aGene Expression Regulation
650	0	4	_aHumans
650	0	4	_aIntellectual Disability _xgenetics
650	0	4	_aKaryotyping
650	0	4	_aLuciferases _xgenetics
650	0	4	_aMADS Domain Proteins _xchemistry
650	0	4	_aMEF2 Transcription Factors
650	0	4	_aMale
650	0	4	_aModels, Molecular
650	0	4	_aMutation, Missense
650	0	4	_aMyogenic Regulatory Factors _xchemistry
650	0	4	_aPromoter Regions, Genetic _xgenetics
650	0	4	_aProtein Binding
650	0	4	_aProtein Serine-Threonine Kinases _xgenetics
650	0	4	_aProtein Structure, Tertiary
650	0	4	_aRecombinant Fusion Proteins _xgenetics
650	0	4	_aSyndrome
700	1		_aGregor, Anne
700	1		_aZweier, Christiane
700	1		_aEngels, Hartmut
700	1		_aSticht, Heinrich
700	1		_aWohlleber, Eva
700	1		_aBijlsma, Emilia K
700	1		_aHolder, Susan E
700	1		_aZenker, Martin
700	1		_aRossier, Eva
700	1		_aGrasshoff, Ute
700	1		_aJohnson, Diana S
700	1		_aRobertson, Lisa
700	1		_aFirth, Helen V
700	1		_aEkici, Arif B
700	1		_aReis, André
700	1		_aRauch, Anita
773	0		_tHuman mutation _gvol. 31 _gno. 6 _gp. 722-33
856	4	0	_uhttps://doi.org/10.1002/humu.21253 _zAvailable from publisher's website
999			_c19864979 _d19864979