Y. Jourdy and colleagues conduct analyses to characterize five genetic variations (three novels and two previously reported) localized in the FVIII B domain for their contribution to Haemophilia A (HA) phenotype. They concluded that FVIII B domain variants, p.D963N, p.S806T, p.G873D, p.H998Q and p.Q1225R may be considered as polymorphism or non-pathologic mutations. In five patients, clinical phenotype could be explained by the additional causative missense mutation and for the p.G224T variant further splicing studies are necessary to determine its pathogenicity.
Jourdy, Y. et al. Haemophilia.
"We are very pleased with Alamut since it conveniently streamlines post-sequencing analyses of detected variants. We value the programme user friendliness and its all-in one approach to variant analysis."
PROF. MILAN MACEK Jr. M.D. Ph.D.
Charles University, Prague