Article
The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele.
Human genetics - 1 Oct 1993
Ohura T, Ogasawara M, Ikeda H, Narisawa K, Tada K
Abstract excerpt
Propionic acidemia is an autosomal recessive metabolic disease resulting from a deficiency of propionyl CoA carboxylase (PCC) activity. To investigate the genetic basis of propionic acidemia, we isolated a cDNA encoding the precursor of the beta subunit of human PCC (beta PCC). The cloned cDNA se...
Topics
- Alleles
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Sequence
- Base Sequence
- Carbon-Carbon Ligases
- Cell Line
- Cells, Cultured
- Chromosome Deletion
- DNA
- Exons
- Female
- Fibroblasts
- Frameshift Mutation
- Humans
- Introns
- Ligases
- Molecular Sequence Data
- Polymerase Chain Reaction