Article
Type 2N von Willebrand disease: rapid genetic diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F)--detection of a novel candidate type 2N mutation: C2810T (R854W).
Thrombosis and haemostasis - 1 Jul 1998
Bowen D J, Standen G R, Mazurier C, Gaucher C, Cumming A, Keeney S, Bidwell J
Abstract excerpt
The majority of patients with type 2N von Willebrand disease (VWD type 2N) have mutations in the region of the von Willebrand factor (VWF) gene encoding the factor VIII binding domain of VWF. Two mutations predominate among VWD type 2N patients: G2811A and C2696T, which respectively bring about t...
Topics
- Base Sequence
- Cloning, Molecular
- Cross-Sectional Studies
- Exons
- Factor VIII
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Protein Structure, Tertiary
- von Willebrand Diseases
- von Willebrand Factor