Article
Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor.
Blood - 15 Jun 1994
Chaing S, Clarke B, Sridhara S, Chu K, Friedman P, VanDusen W, Roberts H R, Blajchman M, Monroe D M, High K A
Abstract excerpt
Factor VII (F.VII) is a vitamin-K-dependent serine protease required in the early stages of blood coagulation. We describe here a patient with severe F.VII deficiency, with a normal plasma F.VII antigen level (452 ng/mL) and F.VII activity less than 1%, who is homozygous for two defects: a G-->A...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Factor VII
- Factor VII Deficiency
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Recombinant Proteins
- Thromboplastin