Gene analysis of inherited antithrombin deficiency and functional analysis of abnormal antithrombin protein (N87D).

@article{Kamijima2018GeneAO,
  title={Gene analysis of inherited antithrombin deficiency and functional analysis of abnormal antithrombin protein (N87D).},
  author={Sayaka Kamijima and Akiko Sekiya and Mao Takata and Haruka Nakano and Morika Murakami and Tomonori Nakazato and Hidesaku Asakura and Eriko Morishita},
  journal={International journal of hematology},
  year={2018},
  volume={107 4},
  pages={
          490-494
        }
}
Inherited antithrombin (AT) deficiency is one of the most clinically significant forms of congenital thrombophilia and follows an autosomal dominant mode of inheritance. We analyzed SERPINC1 in a patient who developed deep-vein thrombosis and low AT activity during pregnancy, and identified a novel missense mutation c.259A>G (p.Asn87Asp; N87D). Surprisingly… CONTINUE READING