| 000 | 01453 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250515081114.0 | ||
| 264 | 0 | _c20080328 | |
| 008 | 200803s 0 0 eng d | ||
| 022 | _a1096-7192 | ||
| 024 | 7 |
_a10.1016/j.ymgme.2007.07.007 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFukao, Toshiyuki | |
| 245 | 0 | 0 |
_aIdentification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. _h[electronic resource] |
| 260 |
_bMolecular genetics and metabolism _cDec 2007 |
||
| 300 |
_a375-8 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAcetyl-CoA C-Acetyltransferase _xdeficiency |
| 650 | 0 | 4 |
_aAlu Elements _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Duplication |
| 650 | 0 | 4 |
_aGenome, Human _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMitochondrial Diseases _xgenetics |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 | _aRecombination, Genetic |
| 700 | 1 | _aZhang, Gaixiu | |
| 700 | 1 | _aRolland, Marie-Odile | |
| 700 | 1 | _aZabot, Marie-Therese | |
| 700 | 1 | _aGuffon, Nathalie | |
| 700 | 1 | _aAoki, Yusuke | |
| 700 | 1 | _aKondo, Naomi | |
| 773 | 0 |
_tMolecular genetics and metabolism _gvol. 92 _gno. 4 _gp. 375-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ymgme.2007.07.007 _zAvailable from publisher's website |
| 999 |
_c17249627 _d17249627 |
||