Activated protein C resistance assay and factor V Leiden

New England Journal of Medicine

Volumn 371, Issue 7, 2014, Pages 685-686

  Prüller, Florian ^a   Weiss, Eva Christine ^a   Raggam, Reinhard B ^a   Cervar Zivkovic, Mila ^a   Renner, Wilfried ^a   Wagner, Jasmin ^a   Michaelis, Simon ^b   März, Winfried ^c   Mangge, Harald ^a  

^a MEDICAL UNIVERSITY OF GRAZ   (Austria)

^b Academic Teaching Hospital Feldkirch   (Austria)

^c SYNLAB ACADEMY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATED PROTEIN C; BLOOD CLOTTING FACTOR 5 LEIDEN; BLOOD CLOTTING FACTOR 5;

ACTIVATED PROTEIN C RESISTANCE ASSAY; BLOOD CLOTTING TEST; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; DNA POLYMORPHISM; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTERMETHOD COMPARISON; LETTER; PARTIAL THROMBOPLASTIN TIME; PRIORITY JOURNAL; RISK ASSESSMENT; THROMBOPHILIA; ACTIVATED PROTEIN C RESISTANCE; ECONOMICS; FEMALE; GENETICS; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION;

ACTIVATED PROTEIN C RESISTANCE; FACTOR V; FEMALE; GENOTYPE; HUMANS; PARTIAL THROMBOPLASTIN TIME; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 84906281969     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMc1405664     Document Type: Letter

References (5)

1. Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994;369:64-7. (Pubitemid 24144355)
2. Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci U S A 1993;90:1004-8. (Pubitemid 23053939)
3. Kujovich JL. Factor V Leiden thrombophilia. Genet Med 2011;13:1-16.
4. Prüller F, Raggam RB, Mangge H, et al. A novel factor V mutation causes a normal activated protein C ratio despite the presence of a heterozygous F5 R506Q (factor V Leiden) mutation. Br J Haematol 2013;163:414-7.
5. Castaman G, Tosetto A, Ruggeri M, Rodeghiero F. Pseudohomozygosity for activated protein C resistance is a risk factor for venous thrombosis. Br J Haematol 1999;106:232-6. (Pubitemid 29343556)