Article
Characterization of a splicing mutation in group A xeroderma pigmentosum.
Proceedings of the National Academy of Sciences of the United States of America - 1 Dec 1990
Satokata I, Tanaka K, Miura N, Miyamoto I, Satoh Y, Kondo S, Okada Y
Abstract excerpt
The molecular basis of group A xeroderma pigmentosum (XP) was investigated by comparison of the nucleotide sequences of multiple clones of the XP group A complementing gene (XPAC) from a patient with group A XP with that of a normal gene. The clones showed a G----C substitution at the 3' splice a...
Topics
- Amino Acid Sequence
- Base Sequence
- Blotting, Southern
- Cell Line
- Cells, Cultured
- Cloning, Molecular
- DNA
- Genes
- Genetic Complementation Test
- Humans
- Introns
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- RNA
- RNA Splicing