Identification and characterization of the first SLC11A2 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of the SLC11A2 gene

Br J Haematol. 2012 Nov;159(4):492-5. doi: 10.1111/bjh.12062. Epub 2012 Sep 27.
No abstract available

Publication types

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

MeSH terms

  • Alleles*
  • Alternative Splicing
  • Anemia / blood
  • Anemia / genetics*
  • Anemia / metabolism
  • Cation Transport Proteins / biosynthesis
  • Cation Transport Proteins / genetics*
  • Female
  • Gene Expression Regulation
  • Humans
  • Middle Aged
  • Mutation*
  • Sequence Analysis, DNA

Substances

  • Cation Transport Proteins
  • solute carrier family 11- (proton-coupled divalent metal ion transporters), member 2