Aberrant F8 gene intron 1 inversion with concomitant duplication and deletion in a severe hemophilia A patient from Southern Italy

J Thromb Haemost. 2013 Jan;11(1):195-7. doi: 10.1111/jth.12061.
No abstract available

Publication types

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

MeSH terms

  • Blood Coagulation / genetics*
  • Comparative Genomic Hybridization
  • DNA Mutational Analysis
  • Factor VIII / genetics*
  • Gene Deletion*
  • Gene Duplication*
  • Genetic Carrier Screening
  • Genetic Predisposition to Disease
  • Genetic Testing / methods
  • Hemophilia A / blood
  • Hemophilia A / diagnosis
  • Hemophilia A / genetics*
  • Humans
  • Infant
  • Introns
  • Italy
  • Male
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction
  • Predictive Value of Tests
  • Sequence Inversion*
  • Severity of Illness Index

Substances

  • F8 protein, human
  • Factor VIII