| 000 | 01726 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250514035149.0 | ||
| 264 | 0 | _c20030130 | |
| 008 | 200301s 0 0 eng d | ||
| 022 | _a1096-7192 | ||
| 024 | 7 |
_a10.1016/s1096-7192(02)00028-8 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBisanzi, S | |
| 245 | 0 | 0 |
_aGenetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene. _h[electronic resource] |
| 260 |
_bMolecular genetics and metabolism _cJun 2002 |
||
| 300 |
_a137-44 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDNA _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aItaly |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOrnithine Carbamoyltransferase _xgenetics |
| 650 | 0 | 4 |
_aOrnithine Carbamoyltransferase Deficiency Disease _xenzymology |
| 700 | 1 | _aMorrone, A | |
| 700 | 1 | _aDonati, M A | |
| 700 | 1 | _aPasquini, E | |
| 700 | 1 | _aSpada, M | |
| 700 | 1 | _aStrisciuglio, P | |
| 700 | 1 | _aParenti, G | |
| 700 | 1 | _aParini, R | |
| 700 | 1 | _aPapadia, F | |
| 700 | 1 | _aZammarchi, E | |
| 773 | 0 |
_tMolecular genetics and metabolism _gvol. 76 _gno. 2 _gp. 137-44 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/s1096-7192(02)00028-8 _zAvailable from publisher's website |
| 999 |
_c11978400 _d11978400 |
||