Abstract
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- 10,902 to cytosine mutation within exon eight of the factor VII gene, encoding for a substitution of arginine for cysteine-329 (factor VII C329R) within the heavy chain of factor VII. This substitution disrupts a disulfide bond within the factor VII catalytic domain and might cause altered conformation of the active site triad.
Original language | English (US) |
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Pages (from-to) | 308-310 |
Number of pages | 3 |
Journal | Blood Coagulation and Fibrinolysis |
Volume | 8 |
Issue number | 5 |
DOIs | |
State | Published - 1997 |
Keywords
- Factor VII
- Genetic variant
- Missense mutation
ASJC Scopus subject areas
- Hematology