Severe female hemophilia A patient caused by a nonsense mutation (p.Gln1686X) of F8 gene combined with skewed X-chromosome inactivation

Blood Coagul Fibrinolysis. 2015 Dec;26(8):977-8. doi: 10.1097/MBC.0000000000000324.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Codon, Nonsense*
  • Factor VIII / genetics*
  • Female
  • Hemophilia A / diagnosis*
  • Hemophilia A / genetics*
  • Hemophilia A / pathology
  • Humans
  • Karyotype
  • Pedigree
  • Siblings
  • X Chromosome Inactivation*

Substances

  • Codon, Nonsense
  • Factor VIII