Article
Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor.
British journal of haematology - 1 Dec 1995
Hilbert L, Gaucher C, Mazurier C
Abstract excerpt
Type 2B von Willebrand disease (vWD) is characterized by an increased affinity of von Willebrand factor (vWF) for binding to platelet glycoprotein Ib (GpIb). Most type 2B candidate mutations are clustered in the 509-695 disulphide loop but three of them (H505D, L697V and A698V) are outside this l...
Topics
- Base Sequence
- DNA Primers
- Female
- Humans
- In Situ Hybridization
- Male
- Middle Aged
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Pedigree
- Platelet Glycoprotein GPIb-IX Complex
- Polymerase Chain Reaction
- Recombinant Proteins
- Ristocetin
- von Willebrand Diseases
- von Willebrand Factor