Article
Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.
The Journal of clinical investigation - 1 Sept 1990
Yokota I, Indo Y, Coates P M, Tanaka K
Abstract excerpt
We sequenced polymerase chain reaction (PCR)-amplified variant medium chain acyl-CoA dehydrogenase (MCAD) cDNAs in cultured fibroblasts from three MCAD-deficient patients. In all three patients, an A to G transition was identified at position 985 of the coding region. Since no appropriate restric...
Topics
- Acyl-CoA Dehydrogenase
- Acyl-CoA Dehydrogenases
- Base Sequence
- Deoxyribonucleases, Type II Site-Specific
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- RNA, Messenger