Article
Two new candidate mutations in type IIA von Willebrand's disease (Arg834-->Gly, Gly846-->Arg) and one polymorphism (Tyr821-->Cys) in the A2 region of the von Willebrand factor.
European journal of haematology - 1 Jul 1993
Donnér M, Kristoffersson A C, Berntorp E, Scheibel E, Thorsen S, Dahlbäck B, Nilsson I M, Holmberg L
Abstract excerpt
Recently, several von Willebrand factor gene mutations resulting in type IIA von Willebrand's disease have been reported. We examined 8 patients from Sweden and Denmark with this phenotype and found two new candidate mutations and a hitherto unknown amino acid polymorphism. One patient had a de n...
Topics
- Adolescent
- Adult
- Alleles
- Amino Acid Sequence
- Arginine
- Base Sequence
- Child
- Cysteine
- DNA
- Female
- Genetic Markers
- Glycine
- Humans
- Male
- Molecular Sequence Data
- Oligodeoxyribonucleotides
- Pedigree
- Point Mutation