Avtor/Urednik		Salobir-Pajnič, B; Peternel, P; Stegnar, M
Naslov		Nova oblika prirojene trombofilije - neodzivnost na aktivirani protein C zaradi mutacije gena za faktor V
Prevedeni naslov		New sort of congenital thrombophilia - resistance to activated protein C due to factor V gene mutation
Tip		članek
Vir		Zdrav Vestn
Vol. in št.		Letnik 65, št. 11
Leto izdaje		1996
Obseg		str. 631-5
Jezik		slo
Abstrakt		Backgraund. Resistance to activated protein C is a novel and important defect in congenital thrimbophilia. It is caused by a single point mutation in the factor V gene. Due to mutation arginine 506 is replaced with glutamine in factor V, which becomes resistant to inactivation by activasted protein C. In vitro the defects is characterized by resistance to the anticoagulant action of activated protein C. In vivo it is associated with bypercoagulables state and increased risk for venous thromboembolism. Resistance to activated protein C could be detected with coagulation test, suitable for screening, and confirmed with gene analysis. Conclusions. Authors gives short report abut current approach for detection and treatment of this trombophilia and a short description of their own results.
Deskriptorji		THROMBOSIS FACTOR V PROTEIN C POINT MUTATION THROMBOPHLEBITIS