Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: from the patient to the gene. INSERM Network on Molecular Abnormalities in von Willebrand Disease.

Dominique Meyer, E Fressinaud, Céline Gaucher, +5

PubMed

GeneticsGenetic EpidemiologyPathologyMolecular GeneticsType 2B +16

Gene Defects in 150 Unrelated French Cases with Type 2 von Willebrand Disease: from the Patient to the Gene

Dominique Meyer, E Fressinaud, Christine Gaucher, +5

Thrombosis and Haemostasis

Mendelian DisorderGenetic DisorderMedicineGeneticsPathogenesis +8

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]

Lysiane Hilbert, Christine Gaucher, Claudine Mazurier

Blood

Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study

Jeroen Eikenboom, Lysiane Hilbert, Anne‐Sophie Ribba, +25

Journal of Thrombosis and Haemostasis

Type 1Autoimmune DiseaseDisease MechanismMcmdm-1vwd StudyGenetic Disorder +7

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

Lysiane Hilbert, Christine Gaucher, Christophe de Romeuf, +3

Blood

A Standard Nomenclature for von Willebrand Factor Gene Mutations and Polymorphisms

Jeroen Eikenboom, D. Ginsburg, Lysiane Hilbert, +5

Thrombosis and Haemostasis

GeneticsPathologyMolecular BiologyMolecular GeneticsDisease Gene Identification +14

Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII‐binding capacity

Lysiane Hilbert, Sylvie Jorieux, Valérie Proulle, +6

British Journal of Haematology

The arginine-552-cysteine (R1315C) mutation within the A1 loop of von Willebrand factor induces an abnormal folding with a loss of function resulting in type 2A–like phenotype of von Willebrand disease: study of 10 patients and mutated recombinant von Willebrand factor

Anne‐Sophie Ribba, Lysiane Hilbert, Jean‐Maurice Lavergne, +8

Blood

Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide

Paquita Nurden, Claudine Caron, Alan T. Nurden, +5

Thrombosis and Haemostasis

Cleavage SiteGeneticsImmunodeficienciesPathologyMolecular Genetics +15

<i>In vitro</i> study of a triple‐secured von Willebrand factor concentrate

Claudine Mazurier, Michel Poulle, Bruno Samor, +2

Vox Sanguinis