A novel missense mutation c.470 A>C (p.D157A) in the SLC40A1 gene as a cause of ferroportin disease in a family with hyperferritinaemia

Br J Haematol. 2010 Jun;149(6):914-6. doi: 10.1111/j.1365-2141.2010.08137.x. Epub 2010 Mar 3.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Cation Transport Proteins / genetics*
  • Female
  • Ferritins / blood*
  • Hemochromatosis / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense*

Substances

  • Cation Transport Proteins
  • metal transporting protein 1
  • Ferritins