Functional characterization of Factor V-Ile359Thr, a novel mutation associated with thrombosis.
A missense mutation, FV-IIe359Thr (FV Liverpool), associated with thrombosis has recently been described. This mutation creates an additional potential N-linked glycosylation site (Asn-X-Ser/Thr) in factor V (FV) at Asn357 that could interfere with secretion and/or protein interactions. To investigate the molecular pathology of FV-IIe359Thr, the mutation was created by site-directed mutagenesis an