Functional characterization of a novel SLC40A1 Arg88Ile mutation in a kindred with familial iron overload treated by phlebotomy

Blood Cells Mol Dis. 2021 Mar:87:102532. doi: 10.1016/j.bcmd.2020.102532. Epub 2020 Dec 24.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cation Transport Proteins / chemistry
  • Cation Transport Proteins / genetics*
  • Humans
  • Iron Overload / congenital
  • Iron Overload / genetics*
  • Iron Overload / therapy
  • Male
  • Middle Aged
  • Models, Molecular
  • Phlebotomy
  • Point Mutation*

Substances

  • Cation Transport Proteins
  • metal transporting protein 1