Description of a new mutation in the L-ferrin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family

MeSH terms

• Adult
• Aged
• Apoferritins
• Cataract / blood
• Cataract / complications
• Cataract / genetics*
• Child
• Child, Preschool
• Female
• Ferritins / blood
• Ferritins / genetics*
• Humans
• Infant
• Iron Metabolism Disorders / blood
• Iron Metabolism Disorders / complications
• Iron Metabolism Disorders / genetics*
• Male
• Pedigree
• Point Mutation*
• Syndrome