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