000			02139 a2200625 4500
005			20250515163138.0
264		0	_c20090526
008			200905s 0 0 eng d
022			_a1432-1203
024	7		_a10.1007/s00439-009-0653-6 _2doi
040			_aNLM _beng _cNLM
100	1		_avan Kuilenburg, André B P
245	0	0	_aAnalysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). _h[electronic resource]
260			_bHuman genetics _cJun 2009
300			_a581-90 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aBase Sequence
650	0	4	_aChild, Preschool
650	0	4	_aChromosomes, Human, Pair 1 _xgenetics
650	0	4	_aComparative Genomic Hybridization
650	0	4	_aDNA Mutational Analysis
650	0	4	_aDihydropyrimidine Dehydrogenase Deficiency _xgenetics
650	0	4	_aDihydrouracil Dehydrogenase (NADP) _xgenetics
650	0	4	_aExons
650	0	4	_aFemale
650	0	4	_aGene Rearrangement
650	0	4	_aHumans
650	0	4	_aIn Situ Hybridization, Fluorescence
650	0	4	_aInfant
650	0	4	_aMale
650	0	4	_aMolecular Sequence Data
650	0	4	_aPyrimidines _xanalysis
650	0	4	_aSequence Deletion
700	1		_aMeijer, Judith
700	1		_aMul, Adri N P M
700	1		_aHennekam, Raoul C M
700	1		_aHoovers, Jan M N
700	1		_ade Die-Smulders, Christine E M
700	1		_aWeber, Peter
700	1		_aMori, Andrea Capone
700	1		_aBierau, Jörgen
700	1		_aFowler, Brian
700	1		_aMacke, Klaus
700	1		_aSass, Jörn Oliver
700	1		_aMeinsma, Rutger
700	1		_aHennermann, Julia B
700	1		_aMiny, Peter
700	1		_aZoetekouw, Lida
700	1		_aVijzelaar, Raymon
700	1		_aNicolai, Joost
700	1		_aYlstra, Bauke
700	1		_aRubio-Gozalbo, M Estela
773	0		_tHuman genetics _gvol. 125 _gno. 5-6 _gp. 581-90
856	4	0	_uhttps://doi.org/10.1007/s00439-009-0653-6 _zAvailable from publisher's website
999			_c18734519 _d18734519