| 000 | 01794 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250515013507.0 | ||
| 264 | 0 | _c20060705 | |
| 008 | 200607s 0 0 eng d | ||
| 022 | _a0141-8955 | ||
| 024 | 7 |
_a10.1007/s10545-005-4483-y _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCoenen, M J H | |
| 245 | 0 | 0 |
_aMutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system. _h[electronic resource] |
| 260 |
_bJournal of inherited metabolic disease _c2005 |
||
| 300 |
_a1091-7 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aATPases Associated with Diverse Cellular Activities |
| 650 | 0 | 4 |
_aCation Transport Proteins _xgenetics |
| 650 | 0 | 4 |
_aCell Nucleus _xmetabolism |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aDNA, Complementary _xmetabolism |
| 650 | 0 | 4 |
_aElectron Transport Complex IV _xgenetics |
| 650 | 0 | 4 | _aExpressed Sequence Tags |
| 650 | 0 | 4 |
_aFibroblasts _xmetabolism |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMetalloendopeptidases _xgenetics |
| 650 | 0 | 4 |
_aMitochondrial Diseases _xgenetics |
| 650 | 0 | 4 |
_aMitochondrial Proteins _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 | _aOpen Reading Frames |
| 650 | 0 | 4 |
_aOxygen _xmetabolism |
| 650 | 0 | 4 | _aPhosphorylation |
| 650 | 0 | 4 | _aPolymorphism, Genetic |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 700 | 1 | _aSmeitink, J A M | |
| 700 | 1 | _aSmeets, R | |
| 700 | 1 | _aTrijbels, F J M | |
| 700 | 1 | _avan den Heuvel, L P | |
| 773 | 0 |
_tJournal of inherited metabolic disease _gvol. 28 _gno. 6 _gp. 1091-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10545-005-4483-y _zAvailable from publisher's website |
| 999 |
_c16049893 _d16049893 |
||