F5F8D, and mutations -in LMAN1 or MCFD2 proteins; Factor V deficiency -FV, double role in coagulation process; Factor X deficiency -FX glycoprotein, pivotal role in coagulation cascade; Genetic variants -identified along prothrombin gene; Knockout mouse models -coagulation factors and vitamin K dependent proteins; Patients with FXIII-A deficiency -bleeding tendency, life-threatening symptoms as umbilical-cord and CNS bleeding; Prothrombin deficiency -rarest inherited coagulation disorder; Rare bleeding disorders; Rare bleeding disorders (RBDs), inherited deficiencies -coagulation factors as fibrinogen, factor (F) II, FV, combined FV and FVIII; Vitamin K-dependent coagulation factors deficiency (VKCFD)
Rare bleeding disorders / F. Peyvandi, M. Menegatti - In: Postgraduate haematology / [a cura di] A.V. Hoffbrand, D. Catovsky, E. Tuddenham, A. Green. - [s.l] : Blackwell, 2010. - ISBN 9781405191807. - pp. 813-838 [10.1002/9781444323160.ch42]
Rare bleeding disorders
F. PeyvandiPrimo
;
2010
Abstract
F5F8D, and mutations -in LMAN1 or MCFD2 proteins; Factor V deficiency -FV, double role in coagulation process; Factor X deficiency -FX glycoprotein, pivotal role in coagulation cascade; Genetic variants -identified along prothrombin gene; Knockout mouse models -coagulation factors and vitamin K dependent proteins; Patients with FXIII-A deficiency -bleeding tendency, life-threatening symptoms as umbilical-cord and CNS bleeding; Prothrombin deficiency -rarest inherited coagulation disorder; Rare bleeding disorders; Rare bleeding disorders (RBDs), inherited deficiencies -coagulation factors as fibrinogen, factor (F) II, FV, combined FV and FVIII; Vitamin K-dependent coagulation factors deficiency (VKCFD)
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