Article
UHG-based mutation screening in type 2B von Willebrand's disease: detection of a candidate mutation Ser547Phe.
Thrombosis and haemostasis - 1 Feb 1996
Wood N, Standen G R, Bowen D J, Cumming A, Lush C, Lee R, Bidwell J
Abstract excerpt
We have recently described a novel mutation screening technique for the diagnosis of type 2B von Willebrand's disease (vWD). Analysis involves the use of a synthetic universal heteroduplex generator (UHG). To test the validity of the technique, we have applied UHG screening to seven type 2B vWD p...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA Mutational Analysis
- Exons
- Genetic Testing
- Genotype
- Humans
- Molecular Sequence Data
- Nucleic Acid Hybridization
- Oligonucleotide Probes
- Point Mutation
- Polymerase Chain Reaction
- Pseudogenes
- Restriction Mapping
- Sequence Alignment
- von Willebrand Diseases
- von Willebrand Factor