Article
Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.
Proceedings of the National Academy of Sciences of the United States of America - 1 Dec 1990
Kelly D P, Whelan A J, Ogden M L, Alpers R, Zhang Z F, Bellus G, Gregersen N, Dorland L, Strauss A W
Abstract excerpt
Deficiency of medium-chain acyl-CoA dehydrogenase (MCAD) is a common inherited defect in energy metabolism. Characterization of the mRNA encoding MCAD in a Dutch MCAD-deficient patient revealed an A----G change at nucleotide position 985 of the MCAD mRNA coding region. This point mutation results...
Topics
- Acyl-CoA Dehydrogenase
- Acyl-CoA Dehydrogenases
- Chromosome Deletion
- Cloning, Molecular
- DNA
- Exons
- Genes
- Humans
- Introns
- Liver
- Mutation
- Polymerase Chain Reaction
- RNA, Messenger