Article
Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency.
European journal of human genetics : EJHG - 1 Feb 2001
Giansily-Blaizot M, Aguilar-Martinez P, Biron-Andreani C, Jeanjean P, Igual H, Schved J F
Abstract excerpt
Severe inherited factor VII (FVII) deficiency is a rare autosomal recessive disorder with a poor relationship between FVII coagulant activity and bleeding tendency. Both clinical expression and mutational spectrum are highly variable. We have screened for mutations the FVII gene of 37 unrelated patients with a FVII coagulant activity less than 5% of normal pooled plasmas. The nine exons with boundaries and the 5'...
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