Article
Molecular diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by oligonucleotide ligation assay.
Clinical chemistry - 1 Jan 1998
Romppanen E L, Mononen T, Mononen I
Abstract excerpt
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a recessively inherited defect in the mitochondrial beta-oxidation of fatty acids. A single nucleotide change, the A985 --> G transition, in the MCAD gene accounts for approximately 90% of all the disease-causing mutations in the patients....
Topics
- Acyl-CoA Dehydrogenase
- Acyl-CoA Dehydrogenases
- Alleles
- Amino Acid Substitution
- Cell Line
- DNA
- DNA Ligases
- Enzyme-Linked Immunosorbent Assay
- Finland
- Genetic Testing
- Humans
- Mutation
- Oligonucleotide Probes
- Polymerase Chain Reaction