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. 1988 May;79(1):86-8.
doi: 10.1007/BF00291718.

Characterization of a partial deletion of the factor VIII gene in a haemophiliac with inhibitor

B Bardoni  1 , M Sampietro, M Romano, M Crapanzano, P M Mannucci, G Camerino
Affiliations

Characterization of a partial deletion of the factor VIII gene in a haemophiliac with inhibitor

B Bardoni et al. 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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References

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