Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage

The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF

(2010) S. L. Haberichter et al.   BLOOD

Gain-of-function GPIb ELISA assay for VWF activity in the Zimmerman Program for the Molecular and Clinical Biology of VWD

(2010) V. H. Flood et al.   BLOOD

A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE

(2010) R. Schneppenheim et al.   BLOOD

von Willebrand's disease

(2010) Lars Holmberg et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype

(2010) G. CASTAMAN et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Genetic alteration of the D2 domain abolishes von Willebrand factor multimerization and trafficking into storage

(2009) S. L. HABERICHTER et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

An assessment of the pathogenic significance of the R924Q von Willebrand factor substitution

(2009) E. BERBER et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

L1503R is a member of group I mutation and has dominant-negative effect on secretion of full-length VWF multimers: an analysis of two patients with type 2A von Willebrand disease

(2008) T. KASHIWAGI et al.   HAEMOPHILIA

Assembly of Weibel Palade body-like tubules from N-terminal domains of von Willebrand factor

(2008) R.-H. Huang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA