Article
Factor VII C329R: a variant with a disrupted disulfide bond in the catalytic domain.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jul 1997
James H L, Anderson K D, Nichols W L, Heit J A
Abstract excerpt
We report a novel mutation within the coagulation factor VII gene associated with a dysfunctional procoagulant factor VII (12% of normal plasma factor VII activity; 50% of normal plasma factor VII antigen level). Using heteroduplex analysis and subsequent sequencing, we identified a thymine-10,90...
Topics
- Cytosine
- Factor VII
- Humans
- Male
- Middle Aged
- Mutation
- Protein Conformation
- Thymine