Article
Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.
American journal of human genetics - 1 Jul 1994
Crane A M, Ledley F D
Abstract excerpt
Mutations have been described in human methylmalonyl CoA mutase (MCM) that exhibit partial defects in enzyme activity, including cobalamin-dependent (i.e., mut-) or interallelic complementation. This work describes mutations in cells from four patients, three of whom exhibit a cobalamin-dependent...
Topics
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Sequence
- Base Sequence
- Binding Sites
- Cell Line
- Cloning, Molecular
- Conserved Sequence
- Fibroblasts
- Gene Transfer Techniques
- Genetic Complementation Test
- Humans
- Methylmalonic Acid
- Methylmalonyl-CoA Mutase
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Phenotype
- Propionates