Article
Mutations in the catalytic domain of factor IX that are related to the subclass hemophilia Bm.
Biochemistry - 29 Jun 1993
Hamaguchi N, Roberts H, Stafford D W
Abstract excerpt
Hemophilia Bm, a variant of hemophilia B, results in a marked increase in the ox brain prothrombin time. Mutations known to cause hemophilia Bm occur at residue 180, 181, or 182 near the amino terminus of the heavy chain and at residue 311, 364, 368, 390, 396, or 397 near the activation site of f...
Topics
- Amino Acid Sequence
- Animals
- Binding Sites
- Cattle
- Cell Line
- DNA
- Factor IX
- Factor IXa
- Factor VIIa
- Genetic Variation
- Hemophilia B
- Humans
- Kidney
- Kinetics
- Models, Molecular
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Point Mutation