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Original Article

Factor VIII gene inversions in severe hemophilia a patients

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Pages 83-85 | Accepted 23 Aug 1994, Published online: 06 Jul 2009

References

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  • Naylor, JA, Green, PM, Rizza, CR, et al. Factor VIII gene explains all cases of haemophilia A. Lancet 1992; 340: 1066–1067
  • Lakich, D, Kazazian, HH, Antonarakis, SE, et al. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nature Genetics 1993; 5: 236–241
  • Naylor, J, Brinke, A, Hassock, S, et al. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet 1993; 2: 1773–1778
  • Kunkel, LM, Smith, KD, Boyer, SH, et al. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 1977; 74: 1245–1249
  • Wion KL, Tuddenham EGD, Lawn RM. A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A. Nucleic Acids Research 1986; 14: 4535–4542
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  • Van de Water NS, May SJ, Browett PJ. Possible misdiagnosis using the Xba I polymorphism for prenatal diagnosis of haemophilia A. Brit J Haematol 1994, in press
  • Goodeve AC, Preston FE, Peake IR. Factor VIII gene rearrangements in patients with severe haemophilia A. Lancet 1994; 343: 329–330
  • Collins, PW, Jenkins, PV, Goldman, E, et al. Intron 22 inversions and haemophilia. Lancet 1994; 343: 791–792
  • Peake, IR, Lillicrap, DP, Boulyjenkov, V, et al. Haemophilia: Strategies for carrier detection and prenatal diagnosis. Bulletin of the World Health Organization 1993; 71: 429–458

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