[Molecular genetics of von Willebrand disease].

Abstract excerpt

Due to the multifunctional character of von Willebrand factor (VWF), its complex biosynthesis and structure, many different disease causing molecular mechanisms exist which explain the well known marked heterogeneity of clinical symptoms in von Willebrand disease (VWD). Identification of specific mutations that can either cause complete or partial absence of VWF, interfere with post-translation processing of VWF...

Topics

• Blotting, Southern
• Europe
• Humans
• Molecular Biology
• Mutation
• Phenotype
• Protein Processing, Post-Translational
• Sequence Deletion
• von Willebrand Diseases
• von Willebrand Factor