| 000 | 00913 a2200277 4500 | ||
|---|---|---|---|
| 005 | 20250515114233.0 | ||
| 264 | 0 | _c20080416 | |
| 008 | 200804s 0 0 eng d | ||
| 022 | _a1432-1203 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBisceglia, Luigi | |
| 245 | 0 | 0 |
_aNovel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria. _h[electronic resource] |
| 260 |
_bHuman genetics _cDec 2007 |
||
| 300 |
_a553 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 |
_aAmino Acid Transport Systems, Basic _xgenetics |
| 650 | 0 | 4 |
_aAmino Acid Transport Systems, Neutral _xgenetics |
| 650 | 0 | 4 |
_aCodon _xgenetics |
| 650 | 0 | 4 |
_aCystinuria _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMutation, Missense |
| 700 | 1 | _aFischetti, Lucia | |
| 700 | 1 | _aStanziale, Pietro | |
| 773 | 0 |
_tHuman genetics _gvol. 122 _gno. 5 _gp. 553 |
|
| 999 |
_c17883056 _d17883056 |
||