Arg578Gln mutations in the von Willebrand factor gene in three unrelated cases of type IIB von Willebrand disease

Blood Coagul Fibrinolysis. 1993 Oct;4(5):787-9.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Arginine / genetics*
  • Base Sequence
  • Child, Preschool
  • DNA, Complementary / chemistry
  • Female
  • Glutamine / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction
  • von Willebrand Diseases / blood
  • von Willebrand Diseases / genetics*
  • von Willebrand Factor / genetics*

Substances

  • DNA, Complementary
  • von Willebrand Factor
  • Glutamine
  • Arginine