Summary
Genomic DNA from 49 Italian patients affected with severe haemophilia A was analysed by Southern blotting technique using a cDNA probe corresponding to exons 14–26 of coagulation factor VIII. No TaqI site mutation was observed in this sample. A partial deletion, eliminating exons 15–18 and spanning about 13 kb, was identified and characterized in one patient with anti-factor VIII antibodies.
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References
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Bardoni, B., Sampietro, M., Romano, M. et al. Characterization of a partial deletion of the factor VIII gene in a haemophiliac with inhibitor. Hum Genet 79, 86–88 (1988). https://doi.org/10.1007/BF00291718
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DOI: https://doi.org/10.1007/BF00291718