Two novel mutations in the tmprss6 gene associated with iron-refractory iron-deficiency anaemia (irida) and partial expression in the heterozygous form

Br J Haematol. 2012 Sep;158(5):668-72. doi: 10.1111/j.1365-2141.2012.09198.x. Epub 2012 Jul 5.
No abstract available

Publication types

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

MeSH terms

  • Administration, Oral
  • Anemia, Iron-Deficiency / genetics*
  • Child
  • Drug Resistance
  • Exons
  • Female
  • Hematinics / therapeutic use
  • Heterozygote*
  • Humans
  • Iron / administration & dosage
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • Pedigree
  • Serine Endopeptidases / genetics*

Substances

  • Hematinics
  • Membrane Proteins
  • Iron
  • Serine Endopeptidases
  • TMPRSS6 protein, human