Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene

Thromb Haemost. 2006 Apr;95(4):747-8.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Alleles
  • Amino Acid Sequence
  • Animals
  • Factor VIII / genetics*
  • Female
  • Gonadal Dysgenesis, 46,XY / complications
  • Gonadal Dysgenesis, 46,XY / genetics*
  • Hemophilia A / complications
  • Hemophilia A / diagnosis*
  • Hemophilia A / genetics*
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation, Missense*
  • Sequence Homology, Amino Acid

Substances

  • Factor VIII