Article
Characterization of three mutations causing von Willebrand disease type IIA in five unrelated families.
Thrombosis and haemostasis - 1 Jun 1992
Inbal A, Seligsohn U, Kornbrot N, Brenner B, Harrison P, Randi A, Rabinowitz I, Sadler J E
Abstract excerpt
Von Willebrand disease (vWD) type IIA is characterized by decreased ristocetin-induced platelet aggregation, and by the absence from plasma of high molecular weight multimers of von Willebrand factor (vWF). Most mutations causing vWD type IIA are clustered within the A2 domain of the mature vWF subunit that is encoded by exon 28. Using the polymerase chain reaction (PCR), the entire exon 28 from patients with vWD...
Topics
- Alleles
- Amino Acids
- Base Sequence
- DNA Restriction Enzymes
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Oligonucleotides