Genotype/phenotype association in von Willebrand disease: is the glass half full or empty?

Abstract excerpt

Since the original description of this disease in 1926, major advances have been made in our understanding of the pathogenetic mechanisms responsible for von Willebrand disease (VWD). We now recognize that this disease comprises a collection of diverse quantitative and qualitative abnormalities of the adhesive protein von Willebrand factor (VWF), the key protein involved in platelet adhesion, and the carrier...

Topics

• Genetic Variation
• Humans
• Phenotype
• von Willebrand Diseases
• von Willebrand Factor