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Identification of the mutations associated with hereditary hyperferritinemia cataract syndrome and hemochromatosis in a Brazilian family.

AuthorsF G A Meneses, B Schnabel, I D C G Silva, F L Alberto, L Toma, H B Nader, C C Lopes
JournalClinical genetics (Clin Genet) Vol. 79 Issue 2 Pg. 189-92 (Feb 2011) ISSN: 1399-0004 [Electronic] Denmark
PMID21210779 (Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)
Chemical References
  • FTL protein, human
  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Transferrin
  • Ferritins
  • Apoferritins
Topics
  • Adult
  • Apoferritins (genetics)
  • Brazil
  • Cataract (congenital, genetics)
  • Female
  • Ferritins (blood)
  • Genotype
  • Hemochromatosis (genetics)
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I (genetics)
  • Humans
  • Iron Metabolism Disorders (congenital, genetics)
  • Male
  • Membrane Proteins (genetics)
  • Mutation
  • Transferrin (analysis)

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