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Characterization of missense mutations in the signal peptide and propeptide of FIX in hemophilia B by a cell-based assay

7 Aug 2020

Abstract excerpt

Many mutations in the signal peptide and propeptide of factor IX (FIX) cause hemophilia B. A FIX variants database reports 28 unique missense mutations in these regions that lead to FIX deficiency, but the underlying mechanism is known only for the mutations on R43 that interfere with propeptide cleavage. It remains unclear how other mutations result in FIX deficiency and why patients carrying the same mutation...

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Share to Blood Coagulation and Thrombosis Mechanisms
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PMID: 32766856
DOI: 10.1182/bloodadvances.2020002520

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