Article
Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.
The Journal of clinical investigation - 1 Feb 1992
Crane A M, Jansen R, Andrews E R, Ledley F D
Abstract excerpt
Distinct genotypic and phenotypic forms of methylmalonyl CoA mutase (MCM) apoenzyme deficiency can be delineated by biochemical analysis of mutant fibroblasts. One form, designated mut-, expresses a phenotype in which residual enzyme activity is evident in cultured cells exposed to high concentra...
Topics
- Amino Acid Sequence
- Base Sequence
- Cloning, Molecular
- Fibroblasts
- Genetic Complementation Test
- Humans
- Methylmalonic Acid
- Methylmalonyl-CoA Mutase
- Molecular Sequence Data
- Mutation
- Saccharomyces cerevisiae
- Vitamin B 12