Article
Mutations causing defective splicing in the human hprt gene.
Environmental and molecular mutagenesis - 1 Jan 1992
Andersson B, Hou S M, Lambert B
Abstract excerpt
Ten intron mutations and one exon mutation giving rise to defective splicing in the human gene for hypoxanthine phosphoribosyl transferase (hprt) in T-lymphocytes have been characterized. The splicing mutants were detected by PCR amplification of hprt cDNA and direct sequencing. Nine of the mutants showed skipping of whole exons or parts of exons in the cDNA, one mutant had an inclusion of an intron sequence into...
Topics
- Base Sequence
- Blotting, Southern
- DNA
- Exons
- Humans
- Hypoxanthine Phosphoribosyltransferase
- Introns
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Polymerase Chain Reaction