Author/Editor		Salobir-Pajnič, B; Peternel, P; Stegnar, M
Title		Nova oblika prirojene trombofilije - neodzivnost na aktivirani protein C zaradi mutacije gena za faktor V
Translated title		New sort of congenital thrombophilia - resistance to activated protein C due to factor V gene mutation
Type		članek
Source		Zdrav Vestn
Vol. and No.		Letnik 65, št. 11
Publication year		1996
Volume		str. 631-5
Language		slo
Abstract		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.
Descriptors		THROMBOSIS FACTOR V PROTEIN C POINT MUTATION THROMBOPHLEBITIS