Related Experiment Video
Updated: Apr 28, 2026

Investigating von Willebrand Factor Pathophysiology Using a Flow Chamber Model of von Willebrand Factor-platelet String Formation
Published on: August 14, 2017
Two novel mutations identified in a type 3 von Willebrand disease patient
Wanyan Ouyang1, Ziqiang Yu, Jie Yin
1aJiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, The First Affiliated Hospital of Soochow University bCollaborative Innovation Center of Hematology, Soochow University, Suzhou, China.
Abstract:
von Willebrand disease (VWD) is the most common inherited bleeding disorder in humans. Caused by mutations in the von Willebrand factor (VWF) gene, these defects result in qualitatively abnormal variants of VWF (classified as type 2 VWD) or a decrease in VWF levels (types 1 and 3 VWD). Type 3 VWD is the most severe type and usually presented with undetectable VWF level. In this report, we describe a type 3 VWD patient. Molecular analysis of the whole VWF gene reveals two novel mutations, c.2480G>A (p.C827Y) in exon 19 and c.3897delT in exon 28.
Related Concept Videos
Principles of Pharmacogenetics: Types of Genetic Variants
Point and Frameshift Mutations
Mutations
Mutations
Mutations
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mutations in Microorganisms

