Article
Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene.
Human mutation - 1 Jan 1998
Freson K, Peerlinck K, Aguirre T, Arnout J, Vermylen J, Cassiman J J, Matthijs G
Abstract excerpt
The detection of mutations in large and complex genes represents a practical challenge in research and diagnostic laboratories. Available methods are either time-consuming or lack sensitivity. Mutation detection in the factor VIII gene, responsible for haemophilia A, is hampered by its large size, its many exons, and the high frequency of de novo mutations that result in different mutations in unrelated patients....
Topics
- DNA
- Factor VIII
- Fluorescent Dyes
- Hemophilia A
- Humans
- Mutation
- Nucleic Acid Heteroduplexes
- Polymerase Chain Reaction
- RNA