Homozygosity for a novel nonsense mutation (G66X) of the HJV gene causes severe juvenile hemochromatosis with fatal cardiomyopathy

Blood. 2005 Jan 1;105(1):432. doi: 10.1182/blood-2004-09-3508.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Age of Onset
  • Cardiomyopathies / complications*
  • Cardiomyopathies / genetics
  • Codon, Nonsense / genetics*
  • Female
  • GPI-Linked Proteins
  • Glycine / genetics
  • Hemochromatosis / complications*
  • Hemochromatosis / genetics*
  • Hemochromatosis Protein
  • Homozygote*
  • Humans
  • Iron / metabolism
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged

Substances

  • Codon, Nonsense
  • GPI-Linked Proteins
  • HJV protein, human
  • Hemochromatosis Protein
  • Membrane Proteins
  • Iron
  • Glycine