First report of two independent point factorVIII mutations in a family with haemophilia a: a word of caution for carrier diagnosis

Thromb Haemost. 2005 Sep;94(3):675-7. doi: 10.1160/TH05-03-0675.
No abstract available

Publication types

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

MeSH terms

  • DNA Mutational Analysis* / methods
  • Factor VIII / genetics*
  • Genetic Carrier Screening*
  • Haplotypes
  • Hemophilia A / diagnosis*
  • Hemophilia A / genetics
  • Humans
  • Pedigree
  • Phenotype
  • Point Mutation

Substances

  • Factor VIII