title: Prothrombin Suresnes: a case of homozygous F299V mutation responsible for hypodysprothrombinemia.
abstract: A patient with a severe prothrombin deficiency and a hemorrhagic diathesis was found to have positive cross-reactive material in plasma and a homozygous F299V mutation (F7V in the A chain). This mutation reinforces the previous conclusion that the A chain affects the geometry of the catalytic triad. Marked prolongation of the Taipan venom and Russell venom clotting times also demonstrated a defective activation mechanism and a defective interaction with factor Xa.
authors.forename: Dominique
authors.initials: D
authors.lastname: François
authors.forename: Caroline
authors.initials: C
authors.lastname: Chevreaud
authors.forename: Dominique
authors.initials: D
authors.lastname: Vignon
authors.forename: Philippe
authors.initials: P
authors.lastname: de Mazancourt
mesh_terms: D000328:Adult; D005260:Female; D006720:Homozygote; D006801:Humans; D007020:Hypoprothrombinemias / Q000097:blood* / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010649:Phenylalanine / Q000235:genetics; D011516:Prothrombin / Q000235:genetics* / Q000502:physiology; D011517:Prothrombin Time; D014633:Valine / Q000235:genetics
chemical_list: D010649:Phenylalanine; D011516:Prothrombin; D014633:Valine