| 000 | 01288 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250513203937.0 | ||
| 264 | 0 | _c20000411 | |
| 008 | 200004s 0 0 eng d | ||
| 022 | _a0065-2598 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aJansen, G A | |
| 245 | 0 | 0 |
_aPhytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. _h[electronic resource] |
| 260 |
_bAdvances in experimental medicine and biology _c1999 |
||
| 300 |
_a371-6 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aCloning, Molecular |
| 650 | 0 | 4 |
_aFibroblasts _xenzymology |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLiver _xenzymology |
| 650 | 0 | 4 |
_aMixed Function Oxygenases _xdeficiency |
| 650 | 0 | 4 | _aOpen Reading Frames |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 |
_aRecombinant Proteins _xmetabolism |
| 650 | 0 | 4 |
_aRefsum Disease _xenzymology |
| 650 | 0 | 4 | _aRestriction Mapping |
| 650 | 0 | 4 | _aReverse Transcriptase Polymerase Chain Reaction |
| 650 | 0 | 4 | _aSequence Deletion |
| 650 | 0 | 4 |
_aSkin _xenzymology |
| 700 | 1 | _aFerdinandusse, S | |
| 700 | 1 | _aHogenhout, E M | |
| 700 | 1 | _aVerhoeven, N M | |
| 700 | 1 | _aJakobs, C | |
| 700 | 1 | _aWanders, R J | |
| 773 | 0 |
_tAdvances in experimental medicine and biology _gvol. 466 _gp. 371-6 |
|
| 999 |
_c10663680 _d10663680 |
||