000			01931 a2200625 4500
005			20250513201326.0
264		0	_c20000309
008			200003s 0 0 eng d
022			_a0002-9297
024	7		_a10.1086/302700 _2doi
040			_aNLM _beng _cNLM
100	1		_aSperandeo, M P
245	0	0	_aStructure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. _h[electronic resource]
260			_bAmerican journal of human genetics _cJan 2000
300			_a92-9 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAmino Acid Metabolism, Inborn Errors _xgenetics
650	0	4	_aAmino Acid Transport Systems, Basic
650	0	4	_aCarrier Proteins _xgenetics
650	0	4	_aChild, Preschool
650	0	4	_aDNA Mutational Analysis
650	0	4	_aExons
650	0	4	_aFemale
650	0	4	_aHumans
650	0	4	_aIntrons
650	0	4	_aItaly
650	0	4	_aJapan
650	0	4	_aMale
650	0	4	_aMembrane Proteins _xgenetics
650	0	4	_aMolecular Sequence Data
650	0	4	_aPoint Mutation
650	0	4	_aPolymerase Chain Reaction
650	0	4	_aPolymorphism, Restriction Fragment Length
650	0	4	_aPolymorphism, Single-Stranded Conformational
650	0	4	_aTunisia
700	1		_aBassi, M T
700	1		_aRiboni, M
700	1		_aParenti, G
700	1		_aBuoninconti, A
700	1		_aManzoni, M
700	1		_aIncerti, B
700	1		_aLarocca, M R
700	1		_aDi Rocco, M
700	1		_aStrisciuglio, P
700	1		_aDianzani, I
700	1		_aParini, R
700	1		_aCandito, M
700	1		_aEndo, F
700	1		_aBallabio, A
700	1		_aAndria, G
700	1		_aSebastio, G
700	1		_aBorsani, G
773	0		_tAmerican journal of human genetics _gvol. 66 _gno. 1 _gp. 92-9
856	4	0	_uhttps://doi.org/10.1086/302700 _zAvailable from publisher's website
999			_c10586592 _d10586592