A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron

Blood. 2005 Oct 15;106(8):2922-3. doi: 10.1182/blood-2005-04-1630.
No abstract available

Publication types

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

MeSH terms

  • Antimicrobial Cationic Peptides / genetics*
  • Antimicrobial Cationic Peptides / urine
  • Glycine / genetics*
  • Hemochromatosis / genetics
  • Hepcidins
  • Homozygote*
  • Humans
  • Iron / pharmacology*
  • Mutation / genetics
  • Portugal
  • Promoter Regions, Genetic / genetics*
  • Transcription, Genetic / genetics*
  • Up-Regulation / drug effects*

Substances

  • Antimicrobial Cationic Peptides
  • HAMP protein, human
  • Hepcidins
  • Iron
  • Glycine