Initiation of Protein S mRNA synthesis in human liver and various cell lines
Copyright policy )Initiation of Protein S mRNA synthesis in human liver and various cell lines
It appears likely that, rather than a possible founder effect, the Bb 14 Arg fi Cys mutation occurs in a CpG dinucleotide (CGT to TGT change) which is a recognized mutation hot spot. Among all the dysfibrinogen variants so far reported, only Bb 14 Arg fi Cys and Aa 554 Arg fi Cys mutations show a sufficient number of reports to suggest an association with increased risk of thrombosis (http://www.geht.org/databaseang/fibrinogen/). Despite the fact that the pathophysiology still remains obscure, the presence of a Bb 14 Arg fi Cys mutation should currently be considered as a risk factor for inherited thrombophilia and the mutation should be looked for in patients with thrombin time prolongation and thrombosis.
- Leiden University Medical Center Netherlands
Gene Expression Regulation, Liver, Humans, Endothelium, Vascular, RNA, Messenger, Transcription Initiation Site, Cell Line, Protein S
Gene Expression Regulation, Liver, Humans, Endothelium, Vascular, RNA, Messenger, Transcription Initiation Site, Cell Line, Protein S
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