Haemophilia A: the consequences of de novo mutations. Two case reports

Blood Transfus. 2018 Jul;16(4):392-393. doi: 10.2450/2017.0292-16. Epub 2017 Apr 5.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, X / genetics*
  • Factor VIII / genetics*
  • Female
  • Hemophilia A / genetics*
  • Humans
  • Italy
  • Mutation*
  • Registries*
  • Turner Syndrome / genetics*
  • X Chromosome Inactivation / genetics*

Substances

  • F8 protein, human
  • Factor VIII