Prothrombin Suresnes: a case of homozygous F299V mutation responsible for hypodysprothrombinemia

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....

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Veröffentlicht in:Haematologica 2006, Vol.91 (3), p.431-432
Hauptverfasser: François, Dominique, Chevreaud, Caroline, Vignon, Dominique, de Mazancourt, Philippe
Format: Report
Sprache:eng
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Zusammenfassung: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.
ISSN:1592-8721