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Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val)

J Thromb Haemost. 2005 Apr;3(4):808-11. doi: 10.1111/j.1538-7836.2005.01230.x.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Codon
  • DNA Primers / chemistry
  • Exons
  • Factor IX / genetics*
  • Factor XI / genetics*
  • Factor XI Deficiency / genetics*
  • Female
  • Genotype
  • Hemophilia B / genetics*
  • Hemorrhage
  • Humans
  • Introns
  • Leucine / chemistry
  • Male
  • Mutation
  • Mutation, Missense*
  • Phenotype
  • Phenylalanine / chemistry
  • Polymerase Chain Reaction
  • Serine / chemistry
  • Tyrosine / chemistry
  • Valine / chemistry

Substances

  • Codon
  • DNA Primers
  • Tyrosine
  • Serine
  • Phenylalanine
  • Factor IX
  • Factor XI
  • Leucine
  • Valine