Article
Evaluation of an automated screening assay for von Willebrand disease type 2N.
Clinical and laboratory haematology - 1 Dec 2002
Taylor S L, Bromidge E, Savidge G F, Alhaq A
Abstract excerpt
Evaluating the factor VIII (FVIII) binding activity of von Willebrand factor (VWF) is an important step in the diagnostic work-up of families affected by apparent mild haemophilia A. In von Willebrand's disease (VWD) type 2N (Normandy), mutations at the N-terminal end of the mature VWF subunit gene prevent the binding of FVIII. Individuals heterozygous for type 2N VWD are generally asymptomatic. Homozygotes and...
Topics
- Automation
- Diagnosis, Differential
- Enzyme-Linked Immunosorbent Assay
- Factor VIII
- Genes, Recessive
- Genetic Testing
- Genotype
- Hemophilia A
- Protein Binding
- von Willebrand Diseases
- von Willebrand Factor