Article
Molecular biology and clinical manifestation of hereditary factor VII deficiency.
Seminars in thrombosis and hemostasis - 1 Jan 2000
Herrmann F H, Wulff K, Auberger K, Aumann V, Bergmann F, Bergmann K, Bratanoff E, Franke D, Grundeis M, Kreuz W, Lenk H, Losonczy H, Maak B, Marx G, Mauz-Körholz C, Pollmann H, Serban M, Sutor A, Syrbe G, Vogel G, Weinstock N, Wenzel E, Wolf K
Abstract excerpt
Inherited factor VII (FVII) deficiency is a rare autosomal recessive disorder. Mutations and polymorphisms of the FVII gene were characterized in more than 40 unrelated patients with FVII deficiency. Among the 29 different mutations, the most frequent were Ala294 Val, Ala294Val;404delC, IVS7+7, and Val281 Phe. Four novel mutations (IVS2+1G>C, Arg247 Cys, Glu265 Lys, Asp343 His) were detected. The relationships...
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