Article
Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum.
Mutation research - 1 Mar 1992
Satokata I, Tanaka K, Yuba S, Okada Y
Abstract excerpt
Four mutations of the XPAC gene were identified as molecular bases of different UV-sensitive subgroups of xeroderma pigmentosum (XP) group A. One was a G to C transversion at the last nucleotide of exon 4 in GM1630/GM2062, a little less hypersensitive subgroup than the most sensitive XP2OS/XP12RO...
Topics
- Adolescent
- Base Sequence
- Blotting, Northern
- Cell Line
- DNA
- DNA Mutational Analysis
- DNA Repair
- Exons
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- RNA Splicing
- Ultraviolet Rays
- Xeroderma Pigmentosum