Article
The CDC Hemophilia A Mutation Project (CHAMP) mutation list: a new online resource.
Human mutation - 1 Feb 2013
Payne Amanda B, Miller Connie H, Kelly Fiona M, Michael Soucie J, Craig Hooper W
Abstract excerpt
Genotyping efforts in hemophilia A (HA) populations in many countries have identified large numbers of unique mutations in the Factor VIII gene (F8). To assist HA researchers conducting genotyping analyses, we have developed a listing of F8 mutations including those listed in existing locus-specific databases as well as those identified in patient populations and reported in the literature. Each mutation was...
Topics
- Centers for Disease Control and Prevention, U.S.
- Databases, Genetic
- Factor VIII
- Genetic Loci
- Genome, Human
- Genotype
- Hemophilia A
- Humans
- Internet
- Mutation
- United States