Article
A case of xeroderma pigmentosum group A diagnosed with a polymerase chain reaction (PCR) technique. Usefulness of PCR in the detection of point mutation in a patient with a hereditary disease.
Archives of dermatology - 1 Jul 1992
Kore-eda S, Tanaka T, Moriwaki S, Nishigori C, Imamura S
Abstract excerpt
BACKGROUND: The gene responsible for the xeroderma pigmentosum (XP) group A gene was recently identified and isolated. Preliminary study with fibroblasts from patients with XP group A revealed that most of the Japanese patients with XP group A have a point mutation at the 3' splice acceptor site of intron 3. This mutation site in the XP group A-complementing gene can be recognized by a restriction enzyme, AlwNI....
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