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Research Article
Gene deletion in an Italian haemophilia B subject.
  1. F Bernardi,
  2. L del Senno,
  3. R Barbieri,
  4. D Buzzoni,
  5. R Gambari,
  6. G Marchetti,
  7. F Conconi,
  8. F Panicucci,
  9. M Positano,
  10. S Pitruzzello

    Abstract

    DNA from 20 Italian haemophilia B patients was analysed by the Southern blotting technique and hybridisation to a factor IX cDNA probe. A large deletion of factor IX gene was detected in one patient with antibodies to the infused factor; the EcoRI pattern of the other 19 subjects examined was normal.

    https://doi.org/10.1136/jmg.22.4.305

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