Sequence and structural properties of identical mutations with varying phenotypes in human coagulation factor IX.

Abstract excerpt

Mutations in human coagulation factor IX cause an X-linked bleeding disorder Hemophilia B, which can be classified as severe, moderately severe and mild based on the plasma levels of factor IX among affected individuals with respect to normal factor IX activity assayed in the patients' plasma (<1%, 2-5%, 6-30%, respectively). Recently, we identified hemophilia B to be a disease with mutations showing clinical...

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