• 1
    Youssoufian H, Pyeritz RE. Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet 2002; 3: 74858.
  • 2
    Gottlieb B, Beitel LK, Trifiro MA. Somatic mosaicism and variable expressivity. Trends Genet 2001; 17: 7982.
  • 3
    Reitsma PH, Rosendal FR. Past and future of genetic research in thrombosis. J Thromb Haemost 2007; 5: 2649.
  • 4
    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: 3698703.
  • 5
    Djordjevic V, Rakicevic LJ, Mikovic D, Kovac M, Miljic P, Radojkovic D, Savic A. Prevalence of Factor V Leiden, Factor V Cambridge, Factor II G20210A and methylenetetrahydrofolate reductase C677T mutations in healthy and thrombophilic Serbian population. Acta Haematol 2004; 112: 2279.
  • 6
    Martinelli I, Battaglioli T, Razzari C, Mannucci PM. Type and location of venous thromboembolism in patients with factor V Leiden or prothrombin G20210A and in those with no thrombophilia. J Thromb Haemost 2007; 5: 98101.
  • 7
    Kovac M, Mitic G, Mikovic Z, Antonijevic N, Djordjevic V, Mikovic D, Mandic V, Rakicevic L, Radojkovic D. Type and location of venous thromboembolism in carriers of Factor V Leiden or prothrombin G20210A mutation versus patients with no mutation. Clin Appl Thromb Hemost 2010; 16: 6670.
  • 8
    Bancroft JD, McDowell SA, Degen SJ. The human prothrombin gene: transcriptional regulation in HepG2 cells. Biochemistry 1992; 31: 1246976.
  • 9
    Larsen WJ, Sherman LS, Potter SS, Scott WJ. Human Embryology Philadelphia, PA: Elsevier Health Sciences, 2001.
  • 10
    Thibodeau IL, Xu J, Li Q, Liu G, Lam K, Veinot JP, Birnie DH, Jones DL, Krahn AD, Lemery R, Nicholson BJ, Gollob MH. Paradigm of genetic mosaicism and lone atrial fibrillation: physiological characterization of a connexin 43-deletion mutant identified from atrial tissue. Circulation 2010; 122: 23644.
  • 11
    Frank SA. Evolution in health and medicine Sackler colloquium: somatic evolutionary genomics: mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration. Proc Natl Acad Sci USA 2010; 107(Suppl 1): 172530.
  • 12
    Gottlieb B, Beitel LK, Alvarado C, Trifiro MA. Selection and mutation in the “new” genetics: an emerging hypothesis. Hum Genet 2010; 127: 491501.