A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome

Blood. 1996 Sep 1;88(5):1895.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter

MeSH terms

  • Adult
  • Cataract / genetics*
  • Child
  • DNA Mutational Analysis
  • Female
  • Ferritins / blood*
  • Ferritins / genetics*
  • Gene Expression Regulation / drug effects
  • Genes
  • Humans
  • Iron / pharmacology
  • Male
  • Point Mutation*
  • Syndrome

Substances

  • Ferritins
  • Iron