| 000 | 01565 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250515042157.0 | ||
| 264 | 0 | _c20071206 | |
| 008 | 200712s 0 0 eng d | ||
| 022 | _a1096-7192 | ||
| 024 | 7 |
_a10.1016/j.ymgme.2006.08.003 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aUgalde, Cristina | |
| 245 | 0 | 0 |
_aMutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome. _h[electronic resource] |
| 260 |
_bMolecular genetics and metabolism _cJan 2007 |
||
| 300 |
_a10-4 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 |
_aAmino Acid Substitution _xgenetics |
| 650 | 0 | 4 | _aCells, Cultured |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aElectron Transport Complex I _xdeficiency |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLeigh Disease _xenzymology |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMitochondrial Proteins _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNADH Dehydrogenase _xgenetics |
| 700 | 1 | _aHinttala, Reetta | |
| 700 | 1 | _aTimal, Sharita | |
| 700 | 1 | _aSmeets, Roel | |
| 700 | 1 | _aRodenburg, Richard J T | |
| 700 | 1 | _aUusimaa, Johanna | |
| 700 | 1 | _avan Heuvel, Lambert P | |
| 700 | 1 | _aNijtmans, Leo G J | |
| 700 | 1 | _aMajamaa, Kari | |
| 700 | 1 | _aSmeitink, Jan A M | |
| 773 | 0 |
_tMolecular genetics and metabolism _gvol. 90 _gno. 1 _gp. 10-4 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ymgme.2006.08.003 _zAvailable from publisher's website |
| 999 |
_c16574762 _d16574762 |
||