000 00998 a2200337 4500
005 20250514223458.0
264 0 _c20050412
008 200504s 0 0 eng d
022 _a0340-6717
040 _aNLM
_beng
_cNLM
100 1 _aNunes, V
245 0 0 _aGene symbol: SLC3A1. Disease: cystinuria.
_h[electronic resource]
260 _bHuman genetics
_cFeb 2005
300 _a246 p.
_bdigital
500 _aPublication Type: Journal Article
650 0 4 _aAmino Acid Transport Systems, Basic
_xgenetics
650 0 4 _aAmino Acid Transport Systems, Neutral
_xgenetics
650 0 4 _aCodon, Nonsense
650 0 4 _aCystinuria
_xgenetics
650 0 4 _aHumans
650 0 4 _aMutation, Missense
700 1 _aFont-Llitjós, M
700 1 _aJiménez-Vidal, M
700 1 _aBisceglia, L
700 1 _aDi Perna, M
700 1 _ade Sanctis, L
700 1 _aRousaud, F
700 1 _aZelante, L
700 1 _aPalacín, M
773 0 _tHuman genetics
_gvol. 116
_gno. 3
_gp. 246
999 _c15488026
_d15488026