Article
Conformational changes in the D' domain of von Willebrand factor induced by CYS 25 and CYS 95 mutations lead to factor VIII binding defect and multimeric impairment.
Blood - 15 May 2000
Jorieux S, Fressinaud E, Goudemand J, Gaucher C, Meyer D, Mazurier C
Abstract excerpt
We report 2 new mutations identified in 3 patients and characterized by the markedly decreased affinity of von Willebrand factor (vWF) for factor VIII (FVIII). Patients 2 and 3, who have a typical type 2N phenotype, were found to be compound heterozygous for Arg91Gln and Cys25Tyr or Cys95Phe, respectively. Patient 1, who is the first cousin of patient 2, had an FVIII binding defect of vWF, low levels of vWF, and...
Topics
- Animals
- Binding Sites
- COS Cells
- Factor VIII
- Humans
- Mutation
- Protein Binding
- Protein Conformation
- von Willebrand Diseases
- von Willebrand Factor