Article
A type 2b von Willebrand disease mutation (Ile546-->Val) associated with an unusual phenotype.
Thrombosis and haemostasis - 1 Sept 1997
Federici A B, Mannucci P M, Stabile F, Canciani M T, Di Rocco N, Miyata S, Ware J, Ruggeri Z M
Abstract excerpt
Type 2B von Willebrand disease (vWD) is typically characterized by enhanced ristocetin-induced platelet aggregation (RIPA) caused by increased von Willebrand factor (vWF) affinity for platelets. Furthermore, absence of larger vWF multimers in plasma is characteristic of the originally described type IIB patients, now considered a subgroup of type 2B. We describe here three affected members of a family presenting...
Topics
- Adult
- Anti-Bacterial Agents
- Child
- Female
- Humans
- Isoleucine
- Male
- Middle Aged
- Phenotype
- Platelet Aggregation
- Point Mutation
- Restriction Mapping
- Ristocetin
- Sequence Analysis, DNA
- Valine
- von Willebrand Diseases
- von Willebrand Factor