Article
Molecular characterization of four novel mutations causing factor VII deficiency.
The hematology journal : the official journal of the European Haematology Association - 1 Jan 2000
Tamary H, Fromovich-Amit Y, Shalmon L, Zaizov R, Yaniv I, Klar A, Peretz H, Brenner B, Lanir N, Zivelin A, Seligsohn U
Abstract excerpt
INTRODUCTION: Hereditary deficiency of factor VII (FVII) is a rare coagulation defect. We previously studied the molecular basis of the FVII deficiency in Israeli patients and found that the majority of them bore the Ala244Val mutation. In the present study we further analysed FVII deficient patients. PATIENTS AND METHODS: Three patients with severe FVII deficiency (FVII activity < or =1%) and one with partial...
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