| 000 | 01637 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250515163437.0 | ||
| 264 | 0 | _c20090730 | |
| 008 | 200907s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.20908 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMonnot, Sophie | |
| 245 | 0 | 0 |
_aStructural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. _h[electronic resource] |
| 260 |
_bHuman mutation _cMay 2009 |
||
| 300 |
_a734-40 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aComputational Biology |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 | _aProtein Structure, Secondary |
| 650 | 0 | 4 |
_aPyruvate Carboxylase _xchemistry |
| 650 | 0 | 4 |
_aPyruvate Carboxylase Deficiency Disease _xenzymology |
| 650 | 0 | 4 |
_aRNA Splice Sites _xgenetics |
| 650 | 0 | 4 | _aSequence Alignment |
| 700 | 1 | _aSerre, Valérie | |
| 700 | 1 | _aChadefaux-Vekemans, Bernadette | |
| 700 | 1 | _aAupetit, Joelle | |
| 700 | 1 | _aRomano, Stéphane | |
| 700 | 1 | _aDe Lonlay, Pascale | |
| 700 | 1 | _aRival, Jean-Marie | |
| 700 | 1 | _aMunnich, Arnold | |
| 700 | 1 | _aSteffann, Julie | |
| 700 | 1 | _aBonnefont, Jean-Paul | |
| 773 | 0 |
_tHuman mutation _gvol. 30 _gno. 5 _gp. 734-40 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.20908 _zAvailable from publisher's website |
| 999 |
_c18744047 _d18744047 |
||