Article
Duplication of a methionine within the glycoprotein Ib binding domain of von Willebrand factor detected by denaturing gradient gel electrophoresis in a patient with type IIB von Willebrand disease.
Blood - 1 Oct 1991
Ribba A S, Lavergne J M, Bahnak B R, Derlon A, Piétu G, Meyer D
Abstract excerpt
von Willebrand disease (vWD) type IIB is characterized by an increased reactivity of von Willebrand factor (vWF) with platelets and a lack of large multimers. Exon 28 of the vWF gene encodes for functional domains involved in the binding of vWF to GPIb, and it is presumed that the defects in type IIB vWD lie within or adjacent to these functional domains. We screened overlapping DNA fragments generated by the...
Topics
- Base Sequence
- Binding Sites
- Codon
- Electrophoresis, Polyacrylamide Gel
- Exons
- Female
- Humans
- Methionine
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization