Article
Characterization of mutations causing factor VII deficiency in 61 unrelated Israeli patients.
Journal of thrombosis and haemostasis : JTH - 1 Oct 2004
Fromovich-Amit Y, Zivelin A, Rosenberg N, Tamary H, Landau M, Seligsohn U
Abstract excerpt
Inherited factor (F)VII deficiency is rare in most populations but relatively common in Israel. The aim of this study was to characterize the molecular and functional defect in unrelated Israeli patients with FVII deficiency. Mutations were identified by direct sequencing of PCR-amplified genomic DNA fragments. Selected mutations were expressed in baby hamster kidney (BHK) cells and tested for binding to tissue...
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