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...
Topics
- Amino Acid Sequence
- Cells, Cultured
- Child, Preschool
- DNA
- Fibroblasts
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Ultraviolet Rays
- Xeroderma Pigmentosum