Article
Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX.
Blood - 1 Mar 1992
Ludwig M, Sabharwal A K, Brackmann H H, Olek K, Smith K J, Birktoft J J, Bajaj S P
Abstract excerpt
Factor IX is a multidomain protein and is the proenzyme of a serine protease, factor IXa, essential for hemostasis. In this report, we describe the molecular basis of hemophilia B (deficiency of factor IX activity) in five patients who have neither deletions nor rearrangements of the factor IX ge...
Topics
- Adult
- Arginine
- Binding Sites
- Calcium
- Exons
- Factor IX
- Glutamates
- Glutamic Acid
- Glutamine
- Hemophilia B
- Humans
- Hydrogen Bonding
- Middle Aged
- Mutation
- Polymerase Chain Reaction
- Promoter Regions, Genetic
- Protein Conformation
- Serine Endopeptidases