Article
Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations.
Blood - 15 Mar 1994
Lyons S E, Cooney K A, Bockenstedt P, Ginsburg D
Abstract excerpt
Type IIA von Willebrand disease (vWD) is an autosomal dominant bleeding disorder characterized by a qualitative defect in von Willebrand factor (vWF). A number of missense mutations responsible for type IIA vWD have recently been identified. This report examines the type IIA vWD mutations Leu777-->Pro and Ile865-->Thr by expression of recombinant vWF containing mutant and wild-type (WT) sequences. Recombinant vWF...
Topics
- Base Sequence
- Cells, Cultured
- Female
- Humans
- Kidney Transplantation
- Molecular Sequence Data
- Mutation
- Recombinant Proteins
- von Willebrand Diseases
- von Willebrand Factor