Article
Three nonsense mutations responsible for group A xeroderma pigmentosum.
Mutation research - 1 Mar 1992
Satokata I, Tanaka K, Miura N, Narita M, Mimaki T, Satoh Y, Kondo S, Okada Y
Abstract excerpt
The molecular basis of xeroderma pigmentosum (XP) group A was studied and 3 nonsense mutations of the XP-A complementing gene (XPAC) were identified. One was a nucleotide transition altering the Arg-228 codon (CGA) to a nonsense codon (TGA). This transition creates a new cleavage site for the res...
Topics
- Base Sequence
- Blotting, Northern
- Cells, Cultured
- DNA
- Deoxyribonucleases, Type II Site-Specific
- Exons
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction