Intron 1 factor VIII gene inversion in a population of Italian hemophilia A patients

This publication has 4 references indexed in Scilit:

• Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A
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• Single-Tube Polymerase Chain Reaction for Rapid Diagnosis of the Inversion Hotspot of Mutation in Hemophilia A
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• Two chimaeric transcription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia
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• Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
  Nature Genetics, 1993