Article
A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization.
Blood - 15 Dec 1998
Jorieux S, Gaucher C, Goudemand J, Mazurier C
Abstract excerpt
In type 2N von Willebrand disease (vWD), von Willebrand factor (vWF) is characterized by normal multimeric pattern, normal platelet-dependent function, but a markedly decreased affinity for factor VIII (FVIII). In this report, we describe the case of a vWD patient who has an abnormal vWF multimer...
Topics
- Amino Acid Substitution
- Asparagine
- Aspartic Acid
- Base Sequence
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Factor VIII
- Heterozygote
- Humans
- Leukocytes
- Male
- Middle Aged
- Mutation
- Protein Binding
- Protein Structure, Tertiary
- von Willebrand Diseases
- von Willebrand Factor