Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency.

@article{Luxembourg2013ImpactOT,
  title={Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency.},
  author={Beate Luxembourg and Anna Pavlova and Christof Geisen and Michael Spannagl and Frank Bergmann and M Krause and Sonja Rosa Alesci and Erhard Seifried and Edelgard Lindhoff-Last},
  journal={Thrombosis and haemostasis},
  year={2013},
  volume={111 2},
  pages={
          249-57
        }
}
Mutations in the antithrombin (AT) gene can impair the capacity of AT to bind heparin (AT deficiency type IIHBS), its target proteases such as thrombin (type IIRS), or both (type IIPE). Type II AT deficiencies are almost exclusively caused by missense mutations, whereas type I AT deficiency can originate from missense or null mutations. In a retrospective cohort study, we investigated the impact of the type of mutation and type of AT deficiency on the manifestation of thromboembolic events in… CONTINUE READING

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