Article
Molecular genetic testing of hemophilia A.
Seminars in thrombosis and hemostasis - 1 Sept 2008
Goodeve Anne
Abstract excerpt
Genetic testing in hemophilia A continues to diversify. This article describes recent advances in several aspects of genetic analysis and its interpretation and reporting. The intron 1 and 22 inversions responsible for 50% of severe hemophilia A cases can be sought using long and inverse polymerase chain reaction (PCR) techniques. Point mutations are analyzed in remaining patients by PCR amplification of the F8...
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