Article
Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene.
Human genetics - 1 Mar 1992
Satokata I, Tanaka K, Okada Y
Abstract excerpt
The molecular basis of group A xeroderma pigmentosum (XP) was investigated, and 3 mutations located in a zinc finger consensus sequence (nucleotide 313-387) of the XP group A complementing (XPAC) gene were identified in 2 Caucasian patients GM2990 and GM2009 who had typical symptoms of group A XP...
Topics
- Amino Acid Sequence
- Base Sequence
- Blotting, Northern
- Cell Survival
- Cells, Cultured
- Chromosome Deletion
- Cloning, Molecular
- DNA Repair
- Genetic Complementation Test
- Humans
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Polymerase Chain Reaction
- Ultraviolet Rays
- Xeroderma Pigmentosum
- Zinc Fingers