Article
Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease.
American journal of human genetics - 1 Jan 1992
Murray E W, Giles A R, Lillicrap D
Abstract excerpt
The origin of new single-gene mutations resulting in inherited disease is an issue which may be at least partially resolved by our enhanced ability to detect these changes. In this report we describe the identification of a missense mutation at codon 553 (guanine to adenine) in the von Willebrand...
Topics
- Autoradiography
- Base Sequence
- Blood Coagulation Tests
- DNA
- Electrophoresis, Polyacrylamide Gel
- Humans
- Leukocytes
- Male
- Methionine
- Molecular Sequence Data
- Mosaicism
- Mutation
- Pedigree
- Platelet Membrane Glycoproteins
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Spermatozoa
- Valine