Naito, E

Identification 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. [electronic resource] - The Journal of clinical investigation May 1990 - 1575-82 p. digital

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.

0021-9738

10.1172/JCI114607 doi


Acyl-CoA Dehydrogenases--deficiency
Alleles
Blotting, Southern
Butyryl-CoA Dehydrogenase
Cell Line
Cells, Cultured
Cloning, Molecular
Female
Genetic Variation
Genomic Library
Humans
Lipid Metabolism, Inborn Errors--enzymology
Mutation
Polymerase Chain Reaction
RNA--genetics
RNA, Messenger--genetics
Reference Values
Restriction Mapping