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Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor
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Allen, S., Abuzenadah, A.M., Blagg, J.L., Hinks, J., Nesbitt, I.M., Goodeve, A.C., Gursel, T., Ingerslev, J., Peake, I.R. & Daly, M.E. (2000) Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor. Blood, 95, 2000-2007.
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Human von Willebrand factor: A multivalent protein composed of identical subunits
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A major factor VIII binding domain resides within the amino-terminal 272 amino acid residues of von Willebrand factor
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The "Normandy" variant of von Willebrand disease: Characterisation of a point mutation in the von Willebrand factor gene
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Gaucher, C., Jorieux, S., Mercier, B., Oufkir, D. & Mazurier, C. (1991) The "Normandy" variant of von Willebrand disease: characterisation of a point mutation in the von Willebrand factor gene. Blood, 77, 1937-1941.
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Leu697 → Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease
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Hilbert, L., Gaucher, C., de Romeuf, C., Horellou, M.H., Vink, T. & Mazurier, C. (1994) Leu697 → Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease. Blood, 83, 1542-1550.
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Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF
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Hilbert, L., Gaucher, C. & Mazurier, C. (1995) Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF. Blood, 86, 1010-1018.
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Two novel mutations Q1053H and C1060R, located in the D3 domain of von Willebrand factor are responsible for decreased FVIII binding capacity
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Hilbert, L., Jorieux, S., Proulle, V., Favier, R., Goudemand, J., Parquet, A., Meyer, D., Fressinaud, E., Mazurier, C. and the INSERM Network on molecular abnormalities in von Willebrand disease. (2003) Two novel mutations Q1053H and C1060R, located in the D3 domain of von Willebrand factor are responsible for decreased FVIII binding capacity. British Journal of Haematology, 120, 627-632.
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Hilbert, L.1
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A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind FVIII and affects its multimerization
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Jorieux, S., Gaucher, C., Goudemand, J. & Mazurier, C. (1998) A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind FVIII and affects its multimerization. Blood, 92, 4663-4670.
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Conformational changes in the D' domain of von Willebrand factor induced by Cys 25 and Cys 95 mutations lead to factor VIII binding defect and multimeric impairment
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Jorieux, S., Fressinaud, E., Goudemand, J., Gaucher, C., Meyer, D., Mazurier, C. and the INSERM Network on Molecular Abnormalities in von Willebrand disease. (2000) Conformational changes in the D' domain of von Willebrand factor induced by Cys 25 and Cys 95 mutations lead to factor VIII binding defect and multimeric impairment. Blood, 95, 3139-3145.
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Dosage de l'antigène lié au facteur FVIII par la technique ELISA. Intérêt dans l'étude de la maladie de Willebrand
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Mazurier, C., Parquet-Gernez, A. & Goudemand, M. (1977) Dosage de l'antigène lié au facteur FVIII par la technique ELISA. Intérêt dans l'étude de la maladie de Willebrand. Pathology and Biology, 25, 18.
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Von Willebrand factor: Structure and function
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Meyer, D. & Girma, J.P. (1993) Von Willebrand factor: structure and function. Thrombosis and Haemostasis, 70, 99-104.
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A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis
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Sadler, J.E. (1994) A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thrombosis and Haemostasis, 71, 520-525.
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