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Identification of a novel mutation in the L ferritin iron-responsive element causing hereditary hyperferritinemia-cataract syndrome.

AuthorsE Messa, R M Pellegrino, A Palmieri, S Carturan, D Cilloni, G Saglio, A Roetto
JournalActa haematologica (Acta Haematol) Vol. 122 Issue 4 Pg. 223-5 ( 2009) ISSN: 1421-9662 [Electronic] Switzerland
PMID19887780 (Publication Type: Journal Article)
Chemical References
  • Iron-Regulatory Proteins
  • DNA
  • Ferritins
  • Apoferritins
Topics
  • Apoferritins (genetics)
  • Base Sequence
  • Binding Sites (genetics)
  • Cataract (genetics)
  • DNA (chemistry, genetics)
  • DNA Mutational Analysis
  • Female
  • Ferritins (blood)
  • Genes, Dominant
  • Humans
  • Iron-Regulatory Proteins (genetics)
  • Italy
  • Male
  • Nucleic Acid Conformation
  • Pedigree
  • Point Mutation
  • Promoter Regions, Genetic
  • Syndrome

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