Is the IVS2+4T>C variant of the HFE gene a splicing mutation or a polymorphism? A study in the Spanish population

Genet Med. 2005 Mar;7(3):212-3. doi: 10.1097/01.gim.0000157125.89581.09.
No abstract available

Publication types

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

MeSH terms

  • Alternative Splicing*
  • Gene Frequency
  • Hemochromatosis / genetics*
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Linkage Disequilibrium
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • Polymorphism, Genetic / genetics*
  • Spain

Substances

  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins