Article
Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.
The Journal of clinical investigation - 1 Jan 1991
Raff M L, Crane A M, Jansen R, Ledley F D, Rosenblatt D S
Abstract excerpt
Genetic complementation of fibroblasts from patients with methylmalonic aciduria (MMA) defines a unique class of allelic mutations arising from mutations at the locus encoding the methylmalonyl coenzyme A (CoA) mutase apoenzyme. Various phenotypes of MMA have been delineated including complete ab...
Topics
- Alleles
- Cell Fusion
- Cell Line
- Chromosome Mapping
- Cloning, Molecular
- Genetic Complementation Test
- Humans
- Methylmalonic Acid
- Methylmalonyl-CoA Mutase
- Mutation
- Vitamin B 12