Article
Characterization of a factor IX variant with a glycine207 to glutamic acid mutation.
Blood - 15 Sept 1994
Lin S W, Lin C N, Hamaguchi N, Smith K J, Shen M C
Abstract excerpt
Factor IXTaipei9 is a factor IX variant from a hemophilia B patient with reduced levels of circulating protein molecules (cross-reacting material reduced, CRM). This variant contained a glycine (Gly) to glutamic acid (Glu) substitution at the 207th codon of mature factor IX. The functional conseq...
Topics
- Benzamidines
- Binding Sites
- Calcium
- Codon
- Computer Simulation
- Electrophoresis, Polyacrylamide Gel
- Factor IX
- Factor VIIa
- Factor X
- Factor XIa
- Glutamates
- Glutamic Acid
- Glycine
- Hemophilia B
- Humans
- Male
- Models, Molecular
- Mutation