Article
Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX.
The Journal of biological chemistry - 5 Jul 1990
Bertina R M, van der Linden I K, Mannucci P M, Reinalda-Poot H H, Cupers R, Poort S R, Reitsma P H
Abstract excerpt
Hemophilia Bm is characterized by a strikingly prolonged plasma ox brain prothrombin time. In an attempt to find an explanation for this phenomenon we have analyzed various aspects of the Bm variants factor IX Deventer, factor IX Milano, factor IX Novara, and factor IX Bergamo. Proteolytic cleava...
Topics
- Amino Acid Sequence
- Antibodies, Monoclonal
- Arginine
- Binding Sites
- Binding, Competitive
- Chymotrypsin
- DNA Restriction Enzymes
- Factor IX
- Factor VIIa
- Factor X
- Factor XIa
- Hemophilia A
- Humans
- Molecular Sequence Data
- Molecular Weight
- Mutation
- Protein Conformation
- Prothrombin Time