Article
Laboratory diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency by the amplification refractory mutation system.
Clinical chemistry - 1 Feb 1993
Tsai M Y, Schwichtenberg K, Tuchman M
Abstract excerpt
We used the amplification refractory mutation system (ARMS)--a polymerase-chain-reaction-based method--to detect the 985 A-to-G mutation of the gene coding for the enzyme medium-chain acyl-CoA dehydrogenase (MCAD). The 985 A-to-G allele is thought to account for approximately 89% of the mutant al...
Topics
- Acyl-CoA Dehydrogenase
- Acyl-CoA Dehydrogenases
- Base Sequence
- Child
- DNA
- Deoxyribonucleases, Type II Site-Specific
- Humans
- Infant
- Male
- Metabolism, Inborn Errors
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction