000			01719 a2200493 4500
005			20250514045017.0
264		0	_c20030103
008			200301s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.10130 _2doi
040			_aNLM _beng _cNLM
100	1		_aWinnepenninckx, Birgitta
245	0	0	_aIdentification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening? _h[electronic resource]
260			_bHuman mutation _cOct 2002
300			_a249-52 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAlanine _xgenetics
650	0	4	_aAmino Acid Substitution _xgenetics
650	0	4	_aChild, Preschool
650	0	4	_aChromosomal Proteins, Non-Histone
650	0	4	_aChromosomes, Human, X _xgenetics
650	0	4	_aCpG Islands _xgenetics
650	0	4	_aDNA-Binding Proteins _xgenetics
650	0	4	_aFemale
650	0	4	_aGenetic Carrier Screening
650	0	4	_aGenetic Testing _xtrends
650	0	4	_aHaplotypes _xgenetics
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aIntellectual Disability _xgenetics
650	0	4	_aMale
650	0	4	_aMethyl-CpG-Binding Protein 2
650	0	4	_aMutation _xgenetics
650	0	4	_aPedigree
650	0	4	_aRepressor Proteins _xgenetics
650	0	4	_aRett Syndrome _xgenetics
650	0	4	_aValine _xgenetics
700	1		_aErrijgers, Vanessa
700	1		_aHayez-Delatte, France
700	1		_aReyniers, Edwin
700	1		_aFrank Kooy, R
773	0		_tHuman mutation _gvol. 20 _gno. 4 _gp. 249-52
856	4	0	_uhttps://doi.org/10.1002/humu.10130 _zAvailable from publisher's website
999			_c12154031 _d12154031