American Journal of Hematology · 1995 · 16 citations · 13 references
MedicineGeneticsHematologyHemostasisHuman GeneticsMedical GeneticsCoagulation DisordersHemostatic DisordersPlatelet DisordersThromboembolic DiseaseThrombosisThrombotic DisordersActivated Protein C ResistanceApc InactivationCongenital ThrombocytopeniaFactor V MutationFactor V PhysiologyGenetic ThrombophiliaMutationProtein C Pathway Impairment
We report a 20-year-old woman who developed heparin-induced thrombocytopenia (HIT) associated with devastating and fatal multiorgan thrombosis. The patient, her mother, and her brother were found to have resistance to activated protein C (APC), and the congenital thrombophilia in this family was verified by the finding of the Arg506 Gln mutation in factor V. This is the first case of HIT and APC resistance. The consequences of this association are discussed.
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Mutation in blood coagulation factor V associated with resistance to activated protein C
Rogier M. Bertina, Bobby P. C. Koeleman, Ted Koster et al. · Nature · 1994 · 3.8K citations
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Björn Dahlbäck, Martin Carlsson, Peter J. Svensson · Proceedings of the National Academy of Sciences · 1993 · 2K citations
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Ted Koster, FR Rosendaal, Hans de Ronde et al. · The Lancet · 1993 · 1.3K citations
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