Prothrombin Suresnes: a case of homozygous F299V mutation responsible for hypodysprothrombinemia.
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.
François
Dominique
D
Chevreaud
Caroline
C
Vignon
Dominique
D
de Mazancourt
Philippe
P
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
D010649:Phenylalanine; D011516:Prothrombin; D014633:Valine