Article
Spectrum of causative mutations in patients with haemophilia A in Austria.
Thrombosis and haemostasis - 1 Jul 2010
Reitter Sylvia, Sturn Rümuth, Horvath Birgit, Freitag Renate, Male Christoph, Muntean Wolfgang, Streif Werner, Pabinger Ingrid, Mannhalter Christine
Abstract excerpt
In patients with haemophilia A knowledge of the pathogenetic mutation is important i) as basis for carrier diagnosis and ii) for risk estimation of inhibitor formation. The pathogenetic mutations were identified by testing inversions in intron 1 and 22 (IVS22 and IVS1) and sequencing part of the promoter, the coding region and the exon/intron boundaries in a cohort of Austrian haemophilia A patients. A total of...
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