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 the homozygous patients, FVII antigen was measured to 10-28%, and activity to 0.6-6.5% of that in normal pooled plasma....
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