Article
Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains.
American journal of human genetics - 1 Oct 1996
Willing M C, Deschenes S P, Slayton R L, Roberts E J
Abstract excerpt
Nonsense and frameshift mutations, which predict premature termination of translation, often cause a dramatic reduction in the amount of transcript from the mutant allele (nonsense-mediated mRNA decay). In some genes, these mutations also influence RNA splicing and induce skipping of the exon tha...
Topics
- Alleles
- Base Sequence
- Collagen
- DNA Mutational Analysis
- Frameshift Mutation
- Humans
- Molecular Sequence Data
- Mutation
- Osteogenesis Imperfecta
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Protein Precursors
- RNA Splicing
- Restriction Mapping
- Terminator Regions, Genetic