Article
Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.
Proceedings of the National Academy of Sciences of the United States of America - 1 Apr 1990
Ledley F D, Jansen R, Nham S U, Fenton W A, Rosenberg L E
Abstract excerpt
Methylmalonyl-CoA mutase (EC 5.4.99.2) is a mitochondrial matrix enzyme whose activity is deficient in the inherited disorder methylmalonic acidemia. Previous studies on primary fibroblast cell lines from patients with methylmalonic acidemia have delineated a variety of biochemical phenotypes und...
Topics
- Amino Acid Metabolism, Inborn Errors
- Base Sequence
- Cell Line
- Cloning, Molecular
- DNA
- Exons
- Genes
- Humans
- Isomerases
- Malonates
- Methylmalonic Acid
- Methylmalonyl-CoA Mutase
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes