Characterization of a partial deletion of the factor VIII gene in a haemophiliac with inhibitor
- 1 May 1988
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 79 (1) , 86-88
- https://doi.org/10.1007/bf00291718
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 13 kb, was identified and characterized in one patient with anti-factor VIII antibodies.Keywords
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