A novel nonsense mutation in exon 2 of the factor IX gene resulting in severe haemophilia B

Intern Emerg Med. 2006;1(4):318-20. doi: 10.1007/BF02934771.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Codon, Nonsense*
  • Exons*
  • Factor IX / genetics*
  • Family
  • Female
  • Genetic Testing
  • Hemophilia B / diagnosis
  • Hemophilia B / genetics*
  • Hemophilia B / therapy
  • Humans
  • Infant
  • Male
  • Pedigree
  • Recombinant Proteins / therapeutic use

Substances

  • Codon, Nonsense
  • Recombinant Proteins
  • Factor IX