Genetic analyses and expression studies identified two novel mutations (A392T and W486C) as molecular bases of two distinct famileis with congenital Factor XII deficiency
(The 45th Annual Meeting of the American Society of Hematology 2003)
先天性凝固第X因子異常症 Factor X Tokyo (Gla32Gln) の機能解析
(第26回日本血栓止血学会 2003)
Genetic analysis of hereditary factor X deficiency in a French patient of Sri Lanka ancestry: in vitro expression study identified Gly366Ser substitution as the molecular basis of the dysfunctional factor X
(International Congress of International Society on Thrombosis and Haemostasis 2003)
