A Three-generation Family Presenting Five Cases of Homozygosity for the 20210 G to A Prothrombin Variant

• References

• 1 Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3’-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996; 88: 3698-703.
• 2 Poort SR, Bertina RM, Vos HL. Rapid detection of the prothrombin 20210 A variation by allele specific PCR. Thromb Haemost 1997; 78: 1157-8.
• 3 Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJH, den Heijer M, Kluijtmans LAJ, van den Heuvel, Rozen R. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nature Genet 1995; 10: 111-3.
• 4 Makris M, Preston FE, Beauchamp NJ, Cooper PC, Daly ME, Hampton KK, Bayliss P, Peake IR, Miller GJ. Co-inheritance of the 20210A allele of the prothrombin gene increases the risk of thrombosis in subjects with familial thrombophilia. Thromb Haemost 1997; 78: 1426-9.
• 5 Howard TE, Marusa M, Channel C, Duncan A. A patient homozygous for a mutation in the prothrombin gene 3’-untranslated region associated with massive thrombosis. Blood Coag Fib 1997; 8: 316-9.