Article
Two distinct mutations at the same site in the PCCB gene in propionic acidemia.
Genomics - 1 Oct 1990
Lamhonwah A M, Troxel C E, Schuster S, Gravel R A
Abstract excerpt
Propionic acidemia is an inborn error of metabolism resulting from a deficiency of propionyl-CoA carboxylase activity. The alpha- and beta-subunits of the enzyme are encoded by the PCCA and PCCB genes, respectively. Using direct sequencing and restriction digests of amplified reverse transcripts...
Topics
- Alleles
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Sequence
- Base Sequence
- Carboxy-Lyases
- DNA Mutational Analysis
- Female
- Frameshift Mutation
- Genes
- Genes, Recessive
- Humans
- Male
- Methylmalonyl-CoA Decarboxylase
- Molecular Sequence Data
- Propionates