| 000 | 01326 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250511212351.0 | ||
| 264 | 0 | _c19911004 | |
| 008 | 199110s 0 0 eng d | ||
| 022 | _a0141-8955 | ||
| 024 | 7 |
_a10.1007/BF01800586 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHansen, L L | |
| 245 | 0 | 0 |
_aCharacterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency. _h[electronic resource] |
| 260 |
_bJournal of inherited metabolic disease _c1991 |
||
| 300 |
_a140-51 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 | _aBase Sequence |
| 650 | 0 | 4 |
_aDNA _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aImmunoblotting |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 |
_aPyruvate Dehydrogenase Complex _xgenetics |
| 650 | 0 | 4 | _aPyruvate Dehydrogenase Complex Deficiency Disease |
| 650 | 0 | 4 | _aX Chromosome |
| 700 | 1 | _aBrown, G K | |
| 700 | 1 | _aKirby, D M | |
| 700 | 1 | _aDahl, H H | |
| 773 | 0 |
_tJournal of inherited metabolic disease _gvol. 14 _gno. 2 _gp. 140-51 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/BF01800586 _zAvailable from publisher's website |
| 999 |
_c1915600 _d1915600 |
||