Article
Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia.
Journal of inherited metabolic disease - 1 Jan 1993
Tahara T, Kraus J P, Ohura T, Rosenberg L E, Fenton W A
Abstract excerpt
Propionic acidaemia is an inborn error of organic acid metabolism caused by deficiency of propionyl-CoA carboxylase (PCC). Enzyme deficiency can result from mutations in either of the non-identical alpha- and beta-subunits. We have screened genomic DNA from patients with defects in the beta-subun...
Topics
- Amino Acid Metabolism, Inborn Errors
- Asian People
- Base Sequence
- Blotting, Southern
- Carboxy-Lyases
- DNA
- Exons
- Humans
- Japan
- Methylmalonyl-CoA Decarboxylase
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Propionates
- Sequence Analysis, DNA
- White People