Article
Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development.
Journal of thrombosis and haemostasis : JTH - 1 Jul 2007
Repessé Y, Slaoui M, Ferrandiz D, Gautier P, Costa C, Costa J M, Lavergne J M, Borel-Derlon A
Abstract excerpt
BACKGROUND: As the publication of the sequence of the factor VIII gene (FVIII) in 1984, a large number of mutations that cause hemophilia A (HA) have been identified. Thanks to the advances in the detection of mutations, it is now possible to identify a putative FVIII sequence alteration in the vast majority of patients with HA. OBJECTIVES: Our main objective was to report on the spectrum of FVIII mutations and...
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