Article
Characterization of a factor VII molecule carrying a mutation in the second epidermal growth factor-like domain.
Thrombosis and haemostasis - 1 Jun 1998
Kavlie A, Orning L, Grindflek A, Stormorken H, Prydz H
Abstract excerpt
A missense mutation at codon 100 in the second epidermal growth factor-like domain, resulting in Gln100-->Arg, was detected in 19 out of 21 available severely factor VII (FVII) deficient patients in Norway. Seventeen patients were homozygous, and the two remaining were compound heterozygotes. In...
Topics
- Adolescent
- Adult
- Alleles
- Amino Acid Sequence
- Animals
- Binding Sites
- Blood Coagulation Tests
- CHO Cells
- Child
- Child, Preschool
- Codon
- Cricetinae
- DNA Mutational Analysis
- Enzyme Activation
- Factor VII
- Factor VII Deficiency
- Factor X
- Female