Article
Characterisation of two novel large F8 deletions in patients with severe haemophilia A and factor VIII inhibitors.
Thrombosis and haemostasis - 1 Feb 2011
Roth Lukas, Marschalek Rolf, Oldenburg Johannes, Oyen Florian, Schneppenheim Reinhard
Abstract excerpt
Large deletions are found in approximately 5% of patients with severe haemophilia A, but only a few deletion breakpoints have been characterised precisely so far. In this study we characterised the deletion breakpoints of two patients with severe haemophilia A, large deletions and factor VIII (FVIII) inhibitors, and subsequently established deletion-specific assays for the identification of carriers. Patient 1...
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