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Coagulation factor V(A2440G) causes east Texas bleeding disorder via TFPIα

The autosomal dominantly inherited east Texas bleeding disorder is linked to an A2440G variant in exon 13 of the F5 gene. Affected individuals have normal levels of coagulation factor V (FV) activity, but demonstrate inhibition of global coagulation tests. We demonstrated that the A2440G mutation ca...

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Detalhes bibliográficos
Main Authors: Vincent, Lisa M., Tran, Sinh, Livaja, Ruzica, Bensend, Tracy A., Milewicz, Dianna M., Dahlbäck, Björn
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3754264/
https://ncbi.nlm.nih.gov/pubmed/23979162
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI69091
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