000			02101 a2200637 4500
005			20250514054809.0
264		0	_c20030221
008			200302s 0 0 eng d
022			_a1468-6244
024	7		_a10.1136/jmg.40.1.11 _2doi
040			_aNLM _beng _cNLM
100	1		_aLongo, I
245	0	0	_aA third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients. _h[electronic resource]
260			_bJournal of medical genetics _cJan 2003
300			_a11-7 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	_aAmino Acid Substitution _xgenetics
650	0	4	_aCell Extracts _xchemistry
650	0	4	_aCell Line
650	0	4	_aChild
650	0	4	_aChromosomes, Human, X _xgenetics
650	0	4	_aCoenzyme A Ligases _xblood
650	0	4	_aFemale
650	0	4	_aGenetic Carrier Screening _xmethods
650	0	4	_aGenetic Testing _xmethods
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aLeucine _xgenetics
650	0	4	_aLymphocytes _xchemistry
650	0	4	_aMale
650	0	4	_aX-Linked Intellectual Disability _xblood
650	0	4	_aMiddle Aged
650	0	4	_aMolecular Diagnostic Techniques _xmethods
650	0	4	_aMutation, Missense _xgenetics
650	0	4	_aPedigree
650	0	4	_aProline _xgenetics
650	0	4	_aRepressor Proteins
650	0	4	_aSaccharomyces cerevisiae Proteins
650	0	4	_aSex Chromosome Aberrations
650	0	4	_aLong-Chain-Fatty-Acid-CoA Ligase
700	1		_aFrints, S G M
700	1		_aFryns, J-P
700	1		_aMeloni, I
700	1		_aPescucci, C
700	1		_aAriani, F
700	1		_aBorghgraef, M
700	1		_aRaynaud, M
700	1		_aMarynen, P
700	1		_aSchwartz, C
700	1		_aRenieri, A
700	1		_aFroyen, G
773	0		_tJournal of medical genetics _gvol. 40 _gno. 1 _gp. 11-7
856	4	0	_uhttps://doi.org/10.1136/jmg.40.1.11 _zAvailable from publisher's website
999			_c12327904 _d12327904