000			02077 a2200637 4500
005			20250517004901.0
264		0	_c20151028
008			201510s 0 0 eng d
022			_a1096-7206
024	7		_a10.1016/j.ymgme.2014.11.004 _2doi
040			_aNLM _beng _cNLM
100	1		_aFerreira, Susana
245	0	0	_aThe alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies. _h[electronic resource]
260			_bMolecular genetics and metabolism _cFeb 2015
300			_a248-58 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdult
650	0	4	_aAlleles
650	0	4	_aAmino Acid Substitution
650	0	4	_aCodon _xgenetics
650	0	4	_aFabry Disease _xcomplications
650	0	4	_aFamily Health
650	0	4	_aFemale
650	0	4	_aGene Frequency
650	0	4	_aGenotype
650	0	4	_aHumans
650	0	4	_aKidney _xpathology
650	0	4	_aMale
650	0	4	_aMiddle Aged
650	0	4	_aMolecular Structure
650	0	4	_aMutation
650	0	4	_aPhenotype
650	0	4	_aalpha-Galactosidase _xgenetics
700	1		_aOrtiz, Alberto
700	1		_aGermain, Dominique P
700	1		_aViana-Baptista, Miguel
700	1		_aCaldeira-Gomes, António
700	1		_aCamprecios, Marta
700	1		_aFenollar-Cortés, Maria
700	1		_aGallegos-Villalobos, Ángel
700	1		_aGarcia, Diego
700	1		_aGarcía-Robles, José Antonio
700	1		_aEgido, Jesús
700	1		_aGutiérrez-Rivas, Eduardo
700	1		_aHerrero, José Antonio
700	1		_aMas, Sebastián
700	1		_aOancea, Raluca
700	1		_aPéres, Paloma
700	1		_aSalazar-Martín, Luis Manuel
700	1		_aSolera-Garcia, Jesús
700	1		_aAlves, Helena
700	1		_aGarman, Scott C
700	1		_aOliveira, João Paulo
773	0		_tMolecular genetics and metabolism _gvol. 114 _gno. 2 _gp. 248-58
856	4	0	_uhttps://doi.org/10.1016/j.ymgme.2014.11.004 _zAvailable from publisher's website
999			_c24422591 _d24422591