000			01802 a2200493 4500
005			20250515190156.0
264		0	_c20100426
008			201004s 0 0 eng d
022			_a1096-7206
024	7		_a10.1016/j.ymgme.2009.09.001 _2doi
040			_aNLM _beng _cNLM
100	1		_aBisceglia, Luigi
245	0	0	_aLarge rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients. _h[electronic resource]
260			_bMolecular genetics and metabolism _cJan 2010
300			_a42-52 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAmino Acid Transport Systems, Basic _xgenetics
650	0	4	_aAmino Acid Transport Systems, Neutral _xgenetics
650	0	4	_aCohort Studies
650	0	4	_aCystinuria _xdiagnosis
650	0	4	_aDNA Mutational Analysis
650	0	4	_aFamily Health
650	0	4	_aFemale
650	0	4	_aGene Frequency
650	0	4	_aGene Rearrangement
650	0	4	_aGenetic Testing _xmethods
650	0	4	_aHumans
650	0	4	_aItaly
650	0	4	_aMale
650	0	4	_aNucleic Acid Amplification Techniques _xmethods
650	0	4	_aPoint Mutation
650	0	4	_aPolymorphism, Single Nucleotide
650	0	4	_aReproducibility of Results
650	0	4	_aSensitivity and Specificity
700	1		_aFischetti, Lucia
700	1		_aBonis, Patrizia De
700	1		_aPalumbo, Orazio
700	1		_aAugello, Bartolomeo
700	1		_aStanziale, Pietro
700	1		_aCarella, Massimo
700	1		_aZelante, Leopoldo
773	0		_tMolecular genetics and metabolism _gvol. 99 _gno. 1 _gp. 42-52
856	4	0	_uhttps://doi.org/10.1016/j.ymgme.2009.09.001 _zAvailable from publisher's website
999			_c19179167 _d19179167