000			01919 a2200589 4500
005			20250516201028.0
264		0	_c20140501
008			201405s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2014.01.020 _2doi
040			_aNLM _beng _cNLM
100	1		_aBui, Catherine
245	0	0	_aXYLT1 mutations in Desbuquois dysplasia type 2. _h[electronic resource]
260			_bAmerican journal of human genetics _cMar 2014
300			_a405-14 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	_aBone and Bones _xmetabolism
650	0	4	_aChild
650	0	4	_aConsanguinity
650	0	4	_aCraniofacial Abnormalities _xgenetics
650	0	4	_aDNA, Complementary _xmetabolism
650	0	4	_aDwarfism _xgenetics
650	0	4	_aExome
650	0	4	_aFemale
650	0	4	_aFibroblasts _xmetabolism
650	0	4	_aGenetic Predisposition to Disease
650	0	4	_aHomozygote
650	0	4	_aHumans
650	0	4	_aJoint Instability _xgenetics
650	0	4	_aMale
650	0	4	_aMicrosatellite Repeats _xgenetics
650	0	4	_aMutation
650	0	4	_aOssification, Heterotopic _xgenetics
650	0	4	_aPentosyltransferases _xgenetics
650	0	4	_aPolydactyly _xgenetics
650	0	4	_aProteoglycans _xmetabolism
650	0	4	_aSequence Analysis, DNA
650	0	4	_aUDP Xylose-Protein Xylosyltransferase
700	1		_aHuber, Céline
700	1		_aTuysuz, Beyhan
700	1		_aAlanay, Yasemin
700	1		_aBole-Feysot, Christine
700	1		_aLeroy, Jules G
700	1		_aMortier, Geert
700	1		_aNitschke, Patrick
700	1		_aMunnich, Arnold
700	1		_aCormier-Daire, Valérie
773	0		_tAmerican journal of human genetics _gvol. 94 _gno. 3 _gp. 405-14
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2014.01.020 _zAvailable from publisher's website
999			_c23597233 _d23597233