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Original Article

A novel antithrombin gene mutation: Slippage and mispairing as a mechanism of genetic disease

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Pages 339-342 | Accepted 07 May 1996, Published online: 06 Jul 2009

References

  • Olds RJ, Lane DA, Thein SL. The molecular genetics of antithrombin deficiency. Brit J Hematol 1994; 87: 221–226
  • Egeberg O. Inherited antithrombin III deficiency causing thrombophilia. Thromb Diath Hemorrhag 1965; 13: 516–530
  • Conlan, MG, Folsom, AR, Finche, A, et al. Antithrombin III: associations with age, race, sex and cardiovascular disease risk factors. Thrombos Hemostas 1994; 4: 551–556
  • Lane, DA, Olds, RJ, Boisclair, M, et al. Antithrombin III mutation database: first update. Thrombos Hemostas 1993; 2: 361–369
  • Olds, RJ, Lane, DA, Chowdury, V, et al. Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia. Biochemistry 1993; 32: 4216–4224
  • Rosendaal, FR, Heijboer, H, Briet, E, et al. Mortality in hereditary antithrombin-III deficiency, 1830–1989. Lancet 1991; 337: 260–262
  • van Boven, HH, Olds, RJ, Thein, SL, et al. Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families. Blood 1994; 84: 4209–4213
  • Kunkel TA. Misalignment-mediated DNA synthesis errors. Biochemistry 1990; 29: 8003–8011
  • Krawczak M, Cooper D. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Human Genetics 1991; 86: 425–441
  • Efstratiadis, A, Posakony, J, Maniatis, T, et al. The structure and evolution of the human β-globin gene family. Cell 1980; 21: 653–668
  • Olds, RJ, Lane, DA, Beresford, C, et al. A recurrent deletion in the antithrombin gene, AT 106–108( -6bp), identified by DNA heteroduplex detection. Genomics 1993; 16: 298–299

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