Article
Mutations in severe, type III von Willebrand's disease in the Dutch population: candidate missense and nonsense mutations associated with reduced levels of von Willebrand factor messenger RNA.
Thrombosis and haemostasis - 5 Oct 1992
Eikenboom J C, Ploos van Amstel H K, Reitsma P H, Briët E
Abstract excerpt
The von Willebrand factor (vWF) genes of nine unrelated, severe, type III von Willebrand's disease (vWD) patients (six of Dutch origin) and four unrelated Dutch type I vWD patients were screened for mutations in exons that contain CGA codons (Arg), which are liable to mutation to TGA stop codons. The nine exons of the vWF gene (3, 8, 9, 10, 28, 31, 32, 43 and 45) that contain all the CGA codons (11 in total) of...
Topics
- Alleles
- DNA
- Gene Amplification
- Gene Expression Regulation
- Genetic Testing
- Genetics, Population
- Genome, Human
- Humans
- Mutation
- Netherlands
- Nucleic Acid Conformation