Article
Whole-exome sequencing to identify genetic risk variants underlying inhibitor development in severe hemophilia A patients.
Blood - 9 Jun 2016
Gorski Marcin M, Blighe Kevin, Lotta Luca A, Pappalardo Emanuela, Garagiola Isabella, Mancini Ilaria, Mancuso Maria Elisa, Fasulo Maria Rosaria, Santagostino Elena, Peyvandi Flora
Abstract excerpt
The development of neutralizing antibodies (inhibitors) against coagulation factor VIII (FVIII) is the most problematic and costly complication of FVIII replacement therapy that affects up to 30% of previously untreated patients with severe hemophilia A. The development of inhibitors is a multifactorial complication involving environmental and genetic factors. Among the latter, F8 gene mutations, ethnicity,...
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