Article
Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene.
Human molecular genetics - 1 Jan 1999
Campeau E, Dupuis L, Leclerc D, Gravel R A
Abstract excerpt
Propionic acidemia is an autosomal recessive disorder caused by a deficiency in the mitochondrial enzyme propionyl-CoA carboxylase (PCC). PCC is composed of two subunits, alpha and beta, encoded by the PCCA and PCCB genes, respectively. We analyzed mutations of the PCCA gene using patients' fibro...
Topics
- Base Sequence
- Carboxy-Lyases
- Cell Line
- DNA
- DNA Mutational Analysis
- DNA Primers
- Drug Stability
- Humans
- Metabolism, Inborn Errors
- Methylmalonyl-CoA Decarboxylase
- Molecular Sequence Data
- Mutation
- Propionates
- Protein Conformation
- RNA Splicing
- RNA, Messenger