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Journal of Medical Genetics 1985;22:305-307; doi:10.1136/jmg.22.4.305
Copyright © 1985 by the BMJ Publishing Group Ltd.

Gene deletion in an Italian haemophilia B subject.

F Bernardi, L del Senno, R Barbieri, D Buzzoni, R Gambari, G Marchetti, F Conconi, F Panicucci, M Positano, S Pitruzzello

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.


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