Characterization of a partial deletion of the factor VIII gene in a haemophiliac with inhibitor |
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| Authors: | B Bardoni M Sampietro M Romano M Crapanzano P M Mannucci G Camerino |
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| Institution: | (1) Dipartimento di Genetica e Microbiologia, Università di Pavia, I-27100 Pavia, Italy;(2) Istituto di Medicina Interna, Università di Milano, Milano, Italy;(3) Centro per l'Emofilia e la Trombosi A. Bianchi Bonomi, Università di Milano, Milano, Italy;(4) Present address: Biologia Generale e Genetica Medica, Università di Pavia, C.P. 217, I-27100 Pavia, Italy |
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| Abstract: | Summary 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. |
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