Article
A new candidate mutation (N528S) within the von Willebrand factor propeptide identified in a Japanese patient with phenotype IIC of von Willebrand disease.
European journal of haematology - 1 Aug 1998
Gaucher C, Uno H, Yamazaki T, Mashiba H, Mazurier C
Abstract excerpt
Phenotype IIC of von Willebrand disease (vWD) is a subtype of type 2A vWD characterized by recessive inheritance and an impaired multimerization of von Willebrand factor (vWF) molecules beyond dimers. The 5 patients with phenotype IIC whose vWF gene defect has been characterized so far are either...
Topics
- Adult
- Amino Acid Substitution
- Asparagine
- DNA Mutational Analysis
- Exons
- Homozygote
- Humans
- Japan
- Male
- Pedigree
- Phenotype
- Point Mutation
- Protein Precursors