Article
Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene.
Nucleic acids research - 25 Mar 1992
Steingrimsdottir H, Rowley G, Dorado G, Cole J, Lehmann A R
Abstract excerpt
A large proportion of mutations at the human hprt locus result in aberrant splicing of the hprt mRNA. We have been able to relate the mutation to the splicing abnormality in 30 of these mutants. Mutations at the splice acceptor sites of introns 4, 6 and 7 result in splicing out of the whole of the downstream exons, whereas in introns 1, 7 or 8 a cryptic site in the downstream exon can be used. Mutations in the...
Topics
- Base Sequence
- Cell Line
- DNA
- DNA Mutational Analysis
- Exons
- Humans
- Hypoxanthine Phosphoribosyltransferase
- Molecular Sequence Data
- Mutation
- Nucleic Acid Conformation
- Polymerase Chain Reaction