Article
Three distinct candidate point mutations of the von Willebrand factor gene in four patients with type IIA von Willebrand disease.
Thrombosis and haemostasis - 1 Jun 1992
Sugiura I, Matsushita T, Tanimoto M, Takahashi I, Yamazaki T, Yamamoto K, Takamatsu J, Kamiya T, Saito H
Abstract excerpt
Type IIA von Willebrand disease (vWD) is the most common type II vWD and is characterized by the selective loss of large and intermediate sized multimers. One explanation for this disorder has been postulated to be a qualitative defect in von Willebrand factor (vWF) which results in increased susceptibility to proteolysis at the bond between residues Tyr842 and Met843. Four missense mutations that may cause type...
Topics
- Base Sequence
- DNA, Single-Stranded
- Humans
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- RNA
- RNA, Messenger
- RNA-Directed DNA Polymerase
- von Willebrand Diseases