1)Miyawaki Y, Suzuki A, Fujita J, et al. Thrombosis from a prothrombin mutation conveying antithrombin resistance. N Engl J Med. 2012; 366: 2390-6
|
|
|
2)Matsushita T, Saito H, Kojima T. The authors reply. N Engl J Med. 2012; 367: 1069-70
|
|
|
3)Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh. 1965; 13: 516. Abstract
|
|
|
4)Griffin JH, Evatt B, Zimmerman TS, et al. Deficiency of protein C in congenital thrombotic disease. J Clin Invest. 1981; 68: 1370-3
|
|
|
5)Comp P, Esmon C. Recurrent venous thromboembolism in patients with a partial deficiency of protein S. N Engl J Med. 1984; 311: 1525-8
|
|
|
6)Miyata T, Sato Y, Ishikawa J, et al. Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis. Thromb Res. 2009; 124: 14-8
|
|
|
7)Bertina RM, Koeleman RPC, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994; 369: 64-7
|
|
|
8)Poort SR, Rosendaal FR, Reitsma, et al. A common genetic variation in the 3ʼ-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996; 88: 3698-703
|
|
|
9)Simioni P, Tormene D, Tognin G, et al. X-Linked thrombophilia with a mutant factor IX (factor IX Padua). N Engl J Med. 2009; 361: 1671-5
|
|
|
10)酒井道生,浦野 元,飯沼麻美,他.乳児発症例を含む血栓症多発の1家系.J UOEH(産業医科大学雑誌).2001; 23: 297-305
|
|
|
11)Djordjevic V, Mirjana K, Iva P, et al. A novel prothrombin c.1787G>A mutation in Serbian family with recurrent thromboembolism- another case of antithrombin resistance. 2013; PA 2.13-4. Abstract
|
|
|
12)Sivasundar S, Oommen AT, Prakash O, et al. Molecular defect of ‘Prothrombin Amritaʼ: substitution of arginine by glutamine (Arg553 to Gln) near the Na(+) binding loop of prothrombin. Blood Cells Mol Dis. 2013; 50: 182-3
|
|
|