Article
Arg578Gln mutations in the von Willebrand factor gene in three unrelated cases of type IIB von Willebrand disease.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Oct 1993
Piao Y C, Lavergne J M, Boyer-Neumann C, Schandelong A, Alessi M C, Meyer D
Abstract excerpt
A recurrent heterozygous CGG-->CAG (Arg578Gln) mutation was detected in exon 28 of the von Willebrand factor gene in three additional unrelated families with inherited type IIB von Willebrand disease. This identical mutation showed a differential phenotypic expression in each family.
Topics
- Adult
- Aged
- Arginine
- Base Sequence
- Child, Preschool
- DNA, Complementary
- Female
- Glutamine
- Humans
- Male
- Molecular Sequence Data
- Mutation