Article
Molecular characterisation and three-dimensional structural analysis of mutations in 21 unrelated families with inherited factor VII deficiency.
Thrombosis and haemostasis - 1 Aug 2000
Peyvandi F, Jenkins P V, Mannucci P M, Billio A, Zeinali S, Perkins S J, Perry D J
Abstract excerpt
Factor VII (FVII) is a four-domain glycoprotein that plays a critical role in the initiation of blood coagulation. Hereditary deficiencies of this plasma protein results in a bleeding diathesis that varies in severity amongst affected patients. We have analysed the FVII gene in 27 patients with FVII deficiency from 21 unrelated families predominantly of Middle-Eastern extraction. A total of 19 different mutations...
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