Article
Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia.
American journal of human genetics - 1 Mar 1990
Ledley F D, Crane A M, Lumetta M
Abstract excerpt
Methylmalonic acidemia (MMA) can be caused by mutations in the gene coding for the methylmalonyl CoA mutase (MCM) apoenzyme or by mutations in genes required for provision of its adenosylcobalamin cofactor. We have characterized MCM activity, gene structure, and expression in a series of primary fibroblast cell lines derived from patients with MCM apoenzyme deficiency. Southern blot analysis reveals normal...
Topics
- Alleles
- Amino Acid Metabolism, Inborn Errors
- Blotting, Northern
- Cell Line
- DNA, Recombinant
- Humans
- Isomerases
- Malonates
- Methylmalonic Acid
- Methylmalonyl-CoA Mutase
- Mutation