doi: 10.1007/BF00291718.
Characterization of a partial deletion of the factor VIII gene in a haemophiliac with inhibitor
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- PMID: 2835307
- DOI: 10.1007/BF00291718
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Characterization of a partial deletion of the factor VIII gene in a haemophiliac with inhibitor
Hum Genet.
1988 May.
Abstract
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 13kb, was identified and characterized in one patient with anti-factor VIII antibodies.
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