Article
Molecular analysis of hemophilia A mutations in the Finnish population.
American journal of human genetics - 1 Jan 1990
Levinson B, Lehesjoki A E, de la Chapelle A, Gitschier J
Abstract excerpt
We have examined the Finnish hemophilia A population for factor VIII gene mutations. This study included 83 unrelated patients and revealed 10 mutations associated with hemophilia. Using cloned cDNA, genomic, and oligonucleotide probes, we have identified three classes of mutations: five mutations causing the loss of TaqI restriction sites, a point mutation resulting in a new TaqI site, and four partial gene...
Topics
- Blotting, Southern
- Chromosome Deletion
- Cloning, Molecular
- DNA
- Deoxyribonucleases, Type II Site-Specific
- Exons
- Factor VIII
- Finland
- Hemophilia A
- Humans
- Mutation
- Pedigree