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Article

Modelling and expression studies of two novel mutations causing factor V deficiency.

Thrombosis and haemostasis - 1 Nov 2008

Delev Daniel, Pavlova Anna, Heinz Stefan, Blaise Mathias Costa, Chandra Tamir, Poetsch Bernd, Seifried Erhard, Oldenburg Johannes

Abstract excerpt

Human coagulation factor V (FV), a non-enzymatic cofactor of the prothrombinase complex, is required for the rapid generation of thrombin. FV deficiency is a rare autosomal recessive bleeding disorder. We describe two novel mutations, Tyr91Asn and Asp2098Tyr, found in two probands with a residual FV activity of 51% and 4%, respectively. Modelling and structural analysis of these mutations were performed following...

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PMID: 18989519

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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