Article
Two missense mutations identified in venous thrombosis patients impair the inhibitory function of the protein Z dependent protease inhibitor.
Thrombosis and haemostasis - 1 May 2012
Young Laura K, Birch Nigel P, Browett Peter J, Coughlin Paul B, Horvath Anita J, Van de Water Neil S, Ockelford Paul A, Harper Paul L
Abstract excerpt
Protein Z-dependent protease inhibitor (ZPI) is a plasma inhibitor of factor (F)Xa and FXIa. In an earlier study, five mutations were identified within the ZPI gene of venous thrombosis patients and healthy controls. Two of these were nonsense mutations and three were missense mutations in important regions of the protein. Here we report that two of these latter three mutations, F145L and Q384R, impair the...
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