Article
Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.
Human genetics - 1 Apr 1991
Gregersen N, Andresen B S, Bross P, Winter V, Rüdiger N, Engst S, Christensen E, Kelly D, Strauss A W, Kølvraa S
Abstract excerpt
A series of experiments has established the molecular defect in the medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) gene in a family with MCAD deficiency. Demonstration of intra-mitochondrial mature MCAD indistinguishable in size (42.5-kDa) from control MCAD, and of mRNA with the correct...
Topics
- Acyl-CoA Dehydrogenases
- Base Sequence
- Blotting, Northern
- Blotting, Western
- Cells, Cultured
- Chromosome Deletion
- Cloning, Molecular
- DNA
- DNA Mutational Analysis
- Escherichia coli
- Female