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Article

Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B

22 Dec 2016

Abstract excerpt

Background Haemophilia B is caused by genetic aberrations in the F9 gene. The majority of these are non-synonymous mutations that alter the primary structure of blood coagulation factor IX (FIX). However, a synonymous mutation c.459G>A (Val107Val) was clinically reported to result in mild haemophilia B (FIX coagulant activity 15%–20% of normal). The F9 mRNA of these patients showed no skipping or retention of...

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PMID: 28007939
DOI: 10.1136/jmedgenet-2016-104072

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