| 000 | 01535 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250515201007.0 | ||
| 264 | 0 | _c20100914 | |
| 008 | 201009s 0 0 eng d | ||
| 022 | _a1399-0004 | ||
| 024 | 7 |
_a10.1111/j.1399-0004.2009.01313.x _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aQuintana, E | |
| 245 | 0 | 0 |
_aMutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency. _h[electronic resource] |
| 260 |
_bClinical genetics _cMay 2010 |
||
| 300 |
_a474-82 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aBlotting, Western |
| 650 | 0 | 4 | _aCase-Control Studies |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aHaplotypes _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aPatient Selection |
| 650 | 0 | 4 |
_aPolymorphism, Single Nucleotide _xgenetics |
| 650 | 0 | 4 |
_aPyruvate Dehydrogenase (Lipoamide) _xgenetics |
| 650 | 0 | 4 |
_aPyruvate Dehydrogenase Complex Deficiency Disease _xenzymology |
| 700 | 1 | _aGort, L | |
| 700 | 1 | _aBusquets, C | |
| 700 | 1 | _aNavarro-Sastre, A | |
| 700 | 1 | _aLissens, W | |
| 700 | 1 | _aMoliner, S | |
| 700 | 1 | _aLluch, M | |
| 700 | 1 | _aVilaseca, M A | |
| 700 | 1 | _aDe Meirleir, L | |
| 700 | 1 | _aRibes, A | |
| 700 | 1 | _aBriones, P | |
| 773 | 0 |
_tClinical genetics _gvol. 77 _gno. 5 _gp. 474-82 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/j.1399-0004.2009.01313.x _zAvailable from publisher's website |
| 999 |
_c19384635 _d19384635 |
||