Article
Residual factor VII activity and different hemorrhagic phenotypes in CRM(+) factor VII deficiencies (Gly331Ser and Gly283Ser).
Blood - 15 Feb 2002
Pinotti Mirko, Etro Daniela, Bindini Debora, Papa Maria Luisa, Rodorigo Giuseppina, Rocino Angiola, Mariani Guglielmo, Ciavarella Nicola, Bernardi Francesco, Pinotti Marko, Etro Dániela, Mariani Guglieuto
Abstract excerpt
Two cross-reacting material-positive (CRM(+)) factor VII (FVII) mutations, associated with similar reductions in coagulant activity (2.5%) but with mild to asymptomatic (Gly331Ser, c184 [in chymotrypsin numbering]) or severe (Gly283Ser, c140) hemorrhagic phenotypes, were investigated. The affected glycines belong to structurally conserved regions in the c184 through c193 and c140s activation domain loops,...
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