Article
Mutations participating in interallelic complementation in propionic acidemia.
American journal of human genetics - 1 Jul 1994
Gravel R A, Akerman B R, Lamhonwah A M, Loyer M, Léon-del-Rio A, Italiano I
Abstract excerpt
Deficiency of propionyl-CoA carboxylase (PCC; alpha 4 beta 4) results in the rare, autosomal recessive disease propionic acidemia. Cell fusion experiments have revealed two complementation groups, pccA and pccB, corresponding to defects of the PCCA (alpha-subunit) and PCCB (beta-subunit) genes, r...
Topics
- Alleles
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Sequence
- Base Sequence
- Binding Sites
- Carboxy-Lyases
- Cell Line
- Conserved Sequence
- DNA Mutational Analysis
- Frameshift Mutation
- Genetic Complementation Test