000			01573 a2200433 4500
005			20250515161219.0
264		0	_c20090730
008			200907s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.20960 _2doi
040			_aNLM _beng _cNLM
100	1		_aVega, Ana I
245	0	0	_aFunctional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. _h[electronic resource]
260			_bHuman mutation _cMay 2009
300			_a795-803 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aBase Sequence
650	0	4	_aCarbohydrate Metabolism, Inborn Errors _xenzymology
650	0	4	_aDNA Mutational Analysis
650	0	4	_aFibroblasts _xenzymology
650	0	4	_aGene Expression Regulation, Enzymologic
650	0	4	_aGenotype
650	0	4	_aGlycosylation
650	0	4	_aHumans
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation _xgenetics
650	0	4	_aPhenotype
650	0	4	_aPhosphotransferases (Phosphomutases) _xgenetics
650	0	4	_aRNA Splicing _xgenetics
650	0	4	_aRNA, Messenger _xgenetics
650	0	4	_aReverse Transcriptase Polymerase Chain Reaction
700	1		_aPérez-Cerdá, Celia
700	1		_aDesviat, Lourdes R
700	1		_aMatthijs, Gert
700	1		_aUgarte, Magdalena
700	1		_aPérez, Belén
773	0		_tHuman mutation _gvol. 30 _gno. 5 _gp. 795-803
856	4	0	_uhttps://doi.org/10.1002/humu.20960 _zAvailable from publisher's website
999			_c18677533 _d18677533