Article
Thirteen novel mutations in the factor VIII gene in the Nijmegen haemophilia A patient population.
British journal of haematology - 1 Oct 2005
Boekhorst Jorien, Verbruggen Bert, Lavergne Jean Maurice, Costa Jean-Marc, Schoormans Selene C M, Brons Paul P T, van Kraaij Marian G J, Nováková Irena R O, van Heerde Waander L
Abstract excerpt
The development of neutralising antibodies to factor VIII (FVIII) is a major complication of haemophilia A (HA) therapy. We aimed to construct an individual risk profile for the development of inhibitors in HA and started by screening for the causative mutation in our HA patient population. A total of 109 patients and 28 carriers were screened. The analysis revealed 38 different mutations in the FVIII gene, of...
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