دورية أكاديمية

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

التفاصيل البيبلوغرافية
العنوان: Characterization of a partial deletion of the factor VIII gene in a haemophiliac with inhibitor.
المؤلفون: Bardoni, B., Sampietro, M., Romano, M., Crapanzano, M., Mannucci, P., Camerino, G.
المصدر: Human Genetics; 1988, Vol. 79 Issue 1, p86-88, 3p
مستخلص: 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. [ABSTRACT FROM AUTHOR]
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قاعدة البيانات: Complementary Index
الوصف
تدمد:03406717
DOI:10.1007/BF00291718