A founder factor VIII mutation, valine 2016 to alanine, in a population with an extraordinarily high prevalence of mild hemophilia A

Thromb Haemost. 2002 Jan;87(1):178-9.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Substitution
  • Codon / genetics
  • Exons / genetics
  • Factor VIII / chemistry
  • Factor VIII / genetics*
  • Founder Effect*
  • Hemophilia A / epidemiology
  • Hemophilia A / genetics*
  • Humans
  • Male
  • Mutation, Missense*
  • Newfoundland and Labrador / epidemiology
  • Point Mutation*
  • Prevalence
  • Protein Folding
  • Protein Structure, Tertiary
  • Structure-Activity Relationship
  • X Chromosome / genetics

Substances

  • Codon
  • Factor VIII