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Article

Evolutionary insights into coagulation factor IX Padua and other high-specific-activity variants

3 Mar 2021

Abstract excerpt

The high-specific-activity factor IX (FIX) variant Padua (R338L) is the most promising transgene for hemophilia B (HB) gene therapy. Although R338 is strongly conserved in mammalian evolution, amino acid substitutions at this position are underrepresented in HB databases. We therefore undertook a complete 20 amino acid scan and determined the specific activity of human (h) and canine (c) FIX variants with every...

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PMID: 33656538
DOI: 10.1182/bloodadvances.2019000405

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