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

MeSH terms

• Apoferritins / genetics*
• Base Sequence
• Binding Sites / genetics
• Cataract / genetics*
• DNA / chemistry
• DNA / 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