Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.

  title={Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.},
  author={S. Antonarakis and J. Rossiter and M. Young and J. Horst and P. de Moerloose and S. Sommer and R. Ketterling and H. Kazazian and C. N{\'e}grier and C. Vinciguerra and J. Gitschier and M. Goossens and E. Girodon and N. Ghanem and F. Plassa and J. Lavergne and M. Vidaud and J. M. Costa and Y. Laurian and S. W. Lin and S. R. Lin and M. Shen and D. Lillicrap and S. Taylor and S. Windsor and S. Valleix and K. Nafa and Y. Sultan and M. Delpech and C. Vnencak-Jones and J. Phillips and R. Ljung and E. Koumbarelis and A. Gialeraki and T. Mandalaki and P. V. Jenkins and P. Collins and K. Pasi and A. Goodeve and I. Peake and F. Preston and M. Schwartz and E. Scheibel and J. Ingerslev and D. Cooper and D. Millar and V. Kakkar and F. Giannelli and J. Naylor and E. Tizzano and M. Baiget and M. Dom{\'e}nech and C. Altisent and J. Tusell and M. Beneyto and J. I. Lorenzo and C. Gaucher and C. Mazurier and K. Peerlinck and G. Matthijs and J. Cassiman and J. Vermylen and P. Mori and M. Acquila and D. Caprino and H. Inaba},
  volume={86 6},
Twenty-two molecular diagnostic laboratories from 14 countries participated in a consortium study to estimate the impact of Factor VIII gene inversions in severe hemophilia A. A total of 2,093 patients with severe hemophilia A were studied; of those, 740 (35%) had a type 1 (distal) factor VIII inversion, and 140 (7%) showed a type 2 (proximal) inversion. In 25 cases, the molecular analysis showed additional abnormal or polymorphic patterns. Ninety-eight percent of 532 mothers of patients with… Expand
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