Molecular diagnosis of inherited bleeding disorders and thrombophilia.

Abstract excerpt

Molecular genetic characterization of the hemostatic system began more than 15 years ago, and, as a result, our knowledge of the genetic pathology of inherited bleeding disorders is well advanced. However, molecular testing for hemophilia and von Willebrand disease (vWD) has been impeded by the large size and complex genomic organization of the genes involved, and by the heterogeneity of the mutations underlying...

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