Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.G1324A
Back to variants list

VWF

NM_000552.5:p.G1324A

Associated Papers

Structure-resolved dynamics of type 2M von Willebrand disease.

Tischer A et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Application of genetic testing for the diagnosis of von Willebrand disease.

Seidizadeh O et al.

Journal of Thrombosis and Haemostasis : Jth, 2024

Thermodynamic stabilization of von Willebrand factor A1 domain induces protein loss of function.

Sandoval-Pérez A et al.

Proteins, 2022

Clinically relevant differences between assays for von Willebrand factor activity.

Boender J et al.

Journal of Thrombosis and Haemostasis : Jth, 2018

Discordant von Willebrand factor (VWF) activity in patients with VWF p.Gly1324Ser confirmed in vitro.

Bowman M et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018

Von Willebrand disease mutation spectrum and associated mutation mechanisms.

de Jong A et al.

Thrombosis Research, 2017

Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test.

Michiels JJ et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2017

The Von Willebrand Factor A1-Collagen III Interaction Is Independent of Conformation and Type 2 Von Willebrand Disease Phenotype.

Machha VR et al.

Journal of Molecular Biology, 2017

Type 2M von Willebrand disease - more often misidentified than correctly identified.

Favaloro EJ et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016

Comparison of von Willebrand factor (VWF) activity levels determined by HemosIL AcuStar assay and HemosIL LIA assay with ristocetin cofactor assay by aggregometry.

Sagheer S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016

A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

Veyradier A et al.

Medicine, 2016

Mutational Constraints on Local Unfolding Inhibit the Rheological Adaptation of von Willebrand Factor.

Tischer A et al.

The Journal of Biological Chemistry, 2016

Misfolding of vWF to pathologically disordered conformations impacts the severity of von Willebrand disease.

Tischer A et al.

Biophysical Journal, 2014

Laboratory testing for von Willebrand disease: toward a mechanism-based classification.

Torres R et al.

Clinics in Laboratory Medicine, 2009

Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.

Gadisseur A et al.

Acta Haematologica, 2009

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

Effect of von Willebrand disease type 2B and type 2M mutations on the susceptibility of von Willebrand factor to ADAMTS-13.

Rayes J et al.

Journal of Thrombosis and Haemostasis : Jth, 2007

The interaction of von Willebrand factor-A1 domain with collagen: mutation G1324S (type 2M von Willebrand disease) impairs the conformational change in A1 domain induced by collagen.

Morales LD et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

Identification of a new type 2M von Willebrand disease mutation also at position 1324 of von Willebrand factor.

Hilbert L et al.

Thrombosis and Haemostasis, 2002

Molecular genetics of type 2 von Willebrand disease.

Fressinaud E et al.

International Journal of Hematology, 2002

The molecular biology of von Willebrand disease.

Keeney S et al.

Clinical and Laboratory Haematology, 2001

Effect of recombinant von Willebrand factor reproducing type 2B or type 2M mutations on shear-induced platelet aggregation.

Ajzenberg N et al.

Blood, 2000

Molecular genetics of von Willebrand disease.

Mazurier C et al.

Annales De Genetique, 1998

Evaluation of an automated von Willebrand factor activity assay in von Willebrand disease.

Trossaërt M et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."