000 | 01552 a2200433 4500 | ||
---|---|---|---|
005 | 20250511200940.0 | ||
264 | 0 | _c19900606 | |
008 | 199006s 0 0 eng d | ||
022 | _a0021-9738 | ||
024 | 7 |
_a10.1172/JCI114607 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aNaito, E | |
245 | 0 | 0 |
_aIdentification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency. _h[electronic resource] |
260 |
_bThe Journal of clinical investigation _cMay 1990 |
||
300 |
_a1575-82 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, U.S. Gov't, P.H.S. | ||
650 | 0 | 4 |
_aAcyl-CoA Dehydrogenases _xdeficiency |
650 | 0 | 4 | _aAlleles |
650 | 0 | 4 | _aBlotting, Southern |
650 | 0 | 4 | _aButyryl-CoA Dehydrogenase |
650 | 0 | 4 | _aCell Line |
650 | 0 | 4 | _aCells, Cultured |
650 | 0 | 4 | _aCloning, Molecular |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGenetic Variation |
650 | 0 | 4 | _aGenomic Library |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aLipid Metabolism, Inborn Errors _xenzymology |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aPolymerase Chain Reaction |
650 | 0 | 4 |
_aRNA _xgenetics |
650 | 0 | 4 |
_aRNA, Messenger _xgenetics |
650 | 0 | 4 | _aReference Values |
650 | 0 | 4 | _aRestriction Mapping |
700 | 1 | _aIndo, Y | |
700 | 1 | _aTanaka, K | |
773 | 0 |
_tThe Journal of clinical investigation _gvol. 85 _gno. 5 _gp. 1575-82 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1172/JCI114607 _zAvailable from publisher's website |
999 |
_c1698440 _d1698440 |