Search Results - "Van de Water, Neil S"

Two missense mutations identified in venous thrombosis patients impair the inhibitory function of the protein Z dependent protease inhibitor by 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

“…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…”
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Prevalence of factor v leiden and prothrombin variant g20210a in patients age <50 years with no significant stenoses at angiography three to four weeks after myocardial infarction by Van de Water, Neil S, French, John K, Lund, Mayanna, Hyde, Thomas A, White, Harvey D, Browett, Peter J

“…OBJECTIVES We sought to determine the frequencies of factor V Leiden and prothrombin variant G20210A in patients age <50 years with no significant coronary…”
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Potential thrombophilic mutations/polymorphisms in patients with no flow-limiting stenosis after myocardial infarction by French, John K., Van de Water, Neil S., Sutton, Timothy M., Lund, Mayanna, Gao, WanZhen, McDowell, Joanne, Liu-Stratton, Yiwen, Pohorence, Jeanette, Szymanski, Diane, Goldschmidt-Clermont, Pascal, White, Harvey D., Browett, Peter J., Cooke, Glen

“…Background Although inherited thrombophilias are more common in patients with venous thromboembolism, their influence on the development of myocardial…”
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Fusion of Platelet-Derived Growth Factor β to a Novel Gene KIAA1509 on Chromosome 14 in an Atypical Myeloproliferative Disorder Associated with Eosinophilia by Browett, Peter J., O'Grady, Anna, Oei, Paul, Holdsworth, Duncan, Van de Water, Neil S.

“…Platelet-derived growth factor β (PDGFRβ), a tyrosine kinase receptor, has recently been shown to be constitutively activated by fusion to different gene…”
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Mutations within the Protein Z-Dependent Protease Inhibitor (ZPI) Gene Are Associated with Venous Thromboembolic Disease: A New Form of Thrombophilia by Harper, Paul L., Van de Water, Neil S., Ashton, Fern, Tan, Tina, Grady, Anne O, Ockelford, Paul A., Browett, Peter

“…ZPI is a recently characterised inhibitory serpin present in plasma. In vitro studies have shown that ZPI inhibits both factor Xa (in the presence of protein…”
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Possible misdiagnosis using the Xba I polymorphism for prenatal diagnosis of haemophilia A by Van de Water, N S, May, S J, Browett, P J

“…A mother of two haemophilia A sons presented at 7 weeks pregnancy for a prenatal diagnosis. Southern blot analysis of haemophilia DNA at the factor VIII intron…”
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Factor VIII gene inversions in severe hemophilia a patients by Van De Water, Neil S., Williams, Ruth, Nelson, Jan, Browett, Peter J.

“…The mutations causing hemophilia A are very heterogeneous with the exception of a large inversion involving intron 22 in the factor VIII(FVIII) gene which…”
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Characterization of the mutant alpha-mannosidase in bovine mannosidosis by Burditt, L J, Phillips, N C, Robinson, D, Winchester, B G, Van-de-Water, N S, Jolly, R D

“…Residual acidic alpha-mannosidase, varying in amount up to approx. 15% of normal values, can be measured in various organs of a calf with mannosidosis. The…”
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Preliminary characterization of the mutant alpha-mannosidase in bovine mannosidosis [proceedings] by Burditt, L J, Winchester, B G, Van-de-Water, N S, Jolly, R D

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