Article
Correlation between phenotype and genotype in a large unselected cohort of children with severe hemophilia A.
Blood - 9 May 2013
Carcao Manuel D, van den Berg H Marijke, Ljung Rolf, Mancuso Maria Elisa
Abstract excerpt
Phenotypic variability is well recognized in severe hemophilia A. A few studies, mainly in adults treated lifelong on demand, suggest that bleeding phenotype correlates with factor VIII gene (F8) mutation type. Because treatment regimens influence outcomes to a large extent, examining bleeding phenotype during the first years of life may be the most suitable way to define this variability. We set out to analyze...
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