doi: 10.1111/j.1600-0609.1992.tb00587.x.
A novel deletion of FVIII gene associated with variable levels of FVIII inhibitor
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- PMID: 1559571
- DOI: 10.1111/j.1600-0609.1992.tb00587.x
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A novel deletion of FVIII gene associated with variable levels of FVIII inhibitor
Eur J Haematol.
1992 Mar.
Abstract
We describe a novel gross deletion of the factor VIII gene in 5 related patients with severe hemophilia A. The deletion extends from intron 15 to at least 8.5 kb beyond the 3' end of the gene (at least 95 kb of extension), and is associated with variable levels of FVIII inhibitor in 4 of the patients. The carrier detection in the family was based on the abnormal restriction pattern of the partially deleted gene.
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