000			01956 a2200673 4500
005			20250517142110.0
264		0	_c20180430
008			201804s 0 0 eng d
022			_a1399-0004
024	7		_a10.1111/cge.13003 _2doi
040			_aNLM _beng _cNLM
100	1		_aPeña-Quintana, L
245	0	0	_aTyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation. _h[electronic resource]
260			_bClinical genetics _cSep 2017
300			_a306-317 p. _bdigital
500			_aPublication Type: Journal Article
650	0	4	_aAdolescent
650	0	4	_aAge of Onset
650	0	4	_aAlleles
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aFemale
650	0	4	_aFounder Effect
650	0	4	_aGenetic Association Studies
650	0	4	_aGenetic Loci
650	0	4	_aGenotype
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aInfant, Newborn
650	0	4	_aMale
650	0	4	_aMutation
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aPolymorphism, Single Nucleotide
650	0	4	_aTyrosine Transaminase _xgenetics
650	0	4	_aTyrosinemias _xdiagnosis
650	0	4	_aYoung Adult
700	1		_aScherer, G
700	1		_aCurbelo-Estévez, M L
700	1		_aJiménez-Acosta, F
700	1		_aHartmann, B
700	1		_aLa Roche, F
700	1		_aMeavilla-Olivas, S
700	1		_aPérez-Cerdá, C
700	1		_aGarcía-Segarra, N
700	1		_aGiguère, Y
700	1		_aHuppke, P
700	1		_aMitchell, G A
700	1		_aMönch, E
700	1		_aTrump, D
700	1		_aVianey-Saban, C
700	1		_aTrimble, E R
700	1		_aVitoria-Miñana, I
700	1		_aReyes-Suárez, D
700	1		_aRamírez-Lorenzo, T
700	1		_aTugores, A
773	0		_tClinical genetics _gvol. 92 _gno. 3 _gp. 306-317
856	4	0	_uhttps://doi.org/10.1111/cge.13003 _zAvailable from publisher's website
999			_c26931856 _d26931856