Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms

J Med Genet. 2004 Jun;41(6):e81. doi: 10.1136/jmg.2003.011718.
No abstract available

Publication types

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

MeSH terms

  • Apoferritins
  • Base Sequence
  • Cataract / blood
  • Cataract / genetics
  • Cataract / pathology
  • Chromatography, High Pressure Liquid / methods
  • Codon, Initiator / genetics*
  • DNA Mutational Analysis
  • Ferritins / blood
  • Ferritins / genetics*
  • Hematologic Diseases / genetics
  • Hematologic Diseases / pathology
  • Humans
  • Nervous System Diseases / genetics
  • Nervous System Diseases / pathology
  • Point Mutation*

Substances

  • Codon, Initiator
  • Ferritins
  • Apoferritins