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 have two of the three mutations (nonsense mutation in exon 3, splicing mutation in intron 3, and non-sense mutation in...
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