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Journal Articles

A Novel Mutation in the D3 Domain of von Willebrand Factor Markedly Decreases Its Ability to Bind Factor VIII and Affects Its Multimerization

S. Jorieux, C. Gaucher, J. Goudemand, C. Mazurier

Blood (1998) 92 (12): 4663–4670.

https://doi.org/10.1182/blood.V92.12.4663

Published: 1998

Journal Articles

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 [see comments]

L Hilbert, C Gaucher, C Mazurier

Blood (1995) 86 (3): 1010–1018.

https://doi.org/10.1182/blood.V86.3.1010.1010

Published: 1995

Journal Articles

Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease

C Gaucher, J Dieval, C Mazurier

Blood (1994) 84 (4): 1024–1030.

https://doi.org/10.1182/blood.V84.4.1024.1024

Published: 1994

Journal Articles

Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease

L Hilbert, C Gaucher, C de Romeuf, MH Horellou, T Vink, C Mazurier

Blood (1994) 83 (6): 1542–1550.

https://doi.org/10.1182/blood.V83.6.1542.1542

Published: 1994

Journal Articles

The mutation Arg (53)----Trp causes von Willebrand disease Normandy by abolishing binding to factor VIII. Studies with recombinant von Willebrand factor

S Jorieux, EA Tuley, C Gaucher, C Mazurier, JE Sadler

Blood (1992) 79 (3): 563–567.

https://doi.org/10.1182/blood.V79.3.563.563

Published: 1992

Journal Articles

The "Normandy" variant of von Willebrand disease: characterization of a point mutation in the von Willebrand factor gene

C Gaucher, S Jorieux, B Mercier, D Oufkir, C Mazurier

Blood (1991) 77 (9): 1937–1941.

https://doi.org/10.1182/blood.V77.9.1937.1937

Published: 1991

NARROW

A Novel Mutation in the D3 Domain of von Willebrand Factor Markedly Decreases Its Ability to Bind Factor VIII and Affects Its Multimerization

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 [see comments]

Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease

Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease

The mutation Arg (53)----Trp causes von Willebrand disease Normandy by abolishing binding to factor VIII. Studies with recombinant von Willebrand factor

The "Normandy" variant of von Willebrand disease: characterization of a point mutation in the von Willebrand factor gene

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ASH Publications

American Society of Hematology

A Novel Mutation in the D3 Domain of von Willebrand Factor Markedly Decreases Its Ability to Bind Factor VIII and Affects Its Multimerization

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 [see comments]

Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease

Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease

The mutation Arg (53)----Trp causes von Willebrand disease Normandy by abolishing binding to factor VIII. Studies with recombinant von Willebrand factor

The "Normandy" variant of von Willebrand disease: characterization of a point mutation in the von Willebrand factor gene

Email alerts

ASH Publications

American Society of Hematology

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