Absence of overt iron overload in two individuals compound heterozygotes for a 22 base pair deletion of exon 2 and the C282Y missense mutation of the HFE gene

Clin Genet. 2003 Feb;63(2):163-5. doi: 10.1034/j.1399-0004.2003.00028.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Base Sequence / genetics
  • Exons
  • Female
  • Gene Deletion
  • Hemochromatosis Protein
  • Heterozygote
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Iron Overload / genetics*
  • Membrane Proteins / genetics*
  • Mutation, Missense / genetics*

Substances

  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins