Article
PCR-RFLP analysis as an aid to genetic counseling of families of Japanese patients with group A xeroderma pigmentosum.
The Journal of investigative dermatology - 1 Sept 1997
Maeda T, Sato K, Minami H, Taguchi H, Yoshikawa K
Abstract excerpt
Because Japanese patients with complementation group A xeroderma pigmentosum (XP-A) show early skin cancer and severe neurologic dysfunction, their family members are greatly concerned about the risk of inherited disease. In contrast to western XP-A patients, almost all Japanese XP-A patients hav...
Topics
- Adult
- Exons
- Female
- Gene Amplification
- Genetic Counseling
- Heterozygote
- Humans
- Introns
- Japan
- Male
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Sequence Analysis, DNA
- Xeroderma Pigmentosum