| 000 | 02548 a2200937 4500 | ||
|---|---|---|---|
| 005 | 20250513191909.0 | ||
| 264 | 0 | _c19990923 | |
| 008 | 199909s 0 0 eng d | ||
| 022 | _a1061-4036 | ||
| 024 | 7 |
_a10.1038/12652 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFeliubadaló, L | |
| 245 | 0 | 0 |
_aNon-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. _h[electronic resource] |
| 260 |
_bNature genetics _cSep 1999 |
||
| 300 |
_a52-7 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAmino Acid Transport Systems, Basic |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aCOS Cells |
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 19 |
| 650 | 0 | 4 |
_aCystinuria _xethnology |
| 650 | 0 | 4 |
_aDNA, Complementary _xanalysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aItaly |
| 650 | 0 | 4 | _aJews |
| 650 | 0 | 4 | _aLibya |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Glycoproteins _xgenetics |
| 650 | 0 | 4 | _aModels, Biological |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aNorth America |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aSequence Homology, Amino Acid |
| 650 | 0 | 4 | _aSpain |
| 650 | 0 | 4 | _aTissue Distribution |
| 700 | 1 | _aFont, M | |
| 700 | 1 | _aPurroy, J | |
| 700 | 1 | _aRousaud, F | |
| 700 | 1 | _aEstivill, X | |
| 700 | 1 | _aNunes, V | |
| 700 | 1 | _aGolomb, E | |
| 700 | 1 | _aCentola, M | |
| 700 | 1 | _aAksentijevich, I | |
| 700 | 1 | _aKreiss, Y | |
| 700 | 1 | _aGoldman, B | |
| 700 | 1 | _aPras, M | |
| 700 | 1 | _aKastner, D L | |
| 700 | 1 | _aPras, E | |
| 700 | 1 | _aGasparini, P | |
| 700 | 1 | _aBisceglia, L | |
| 700 | 1 | _aBeccia, E | |
| 700 | 1 | _aGallucci, M | |
| 700 | 1 | _ade Sanctis, L | |
| 700 | 1 | _aPonzone, A | |
| 700 | 1 | _aRizzoni, G F | |
| 700 | 1 | _aZelante, L | |
| 700 | 1 | _aBassi, M T | |
| 700 | 1 | _aGeorge, A L | |
| 700 | 1 | _aManzoni, M | |
| 700 | 1 | _aDe Grandi, A | |
| 700 | 1 | _aRiboni, M | |
| 700 | 1 | _aEndsley, J K | |
| 700 | 1 | _aBallabio, A | |
| 700 | 1 | _aBorsani, G | |
| 700 | 1 | _aReig, N | |
| 700 | 1 | _aFernández, E | |
| 700 | 1 | _aEstévez, R | |
| 700 | 1 | _aPineda, M | |
| 700 | 1 | _aTorrents, D | |
| 700 | 1 | _aCamps, M | |
| 700 | 1 | _aLloberas, J | |
| 700 | 1 | _aZorzano, A | |
| 700 | 1 | _aPalacín, M | |
| 773 | 0 |
_tNature genetics _gvol. 23 _gno. 1 _gp. 52-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/12652 _zAvailable from publisher's website |
| 999 |
_c10429001 _d10429001 |
||