Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs

J Med Genet. 2001 Sep;38(9):632-6. doi: 10.1136/jmg.38.9.632.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Age of Onset
  • Alleles
  • DNA Mutational Analysis
  • Female
  • Ferritins / blood
  • Genetic Variation / genetics*
  • HLA Antigens / genetics*
  • Hemochromatosis / blood
  • Hemochromatosis / genetics*
  • Hemochromatosis / physiopathology*
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics*
  • Homozygote
  • Humans
  • Iron / blood
  • Iron / metabolism*
  • Male
  • Matched-Pair Analysis
  • Membrane Proteins*
  • Middle Aged
  • Mutation, Missense / genetics*
  • Nuclear Family
  • Pedigree
  • Penetrance
  • Regression Analysis
  • Transferrin / metabolism

Substances

  • HFE protein, human
  • HLA Antigens
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Transferrin
  • Ferritins
  • Iron