title: Description of a new mutation in the L-ferrin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family.
authors.forename: A
authors.initials: A
authors.lastname: Balas
authors.forename: M J
authors.initials: MJ
authors.lastname: Aviles
authors.forename: F
authors.initials: F
authors.lastname: Garcia-Sanchez
authors.forename: J L
authors.initials: JL
authors.lastname: Vicario
mesh_terms: D000328:Adult; D000368:Aged; D001052:Apoferritins; D002386:Cataract / Q000097:blood / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005293:Ferritins / Q000097:blood / Q000235:genetics*; D006801:Humans; D007223:Infant; D019189:Iron Metabolism Disorders / Q000097:blood / Q000150:complications / Q000235:genetics*; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D013577:Syndrome
chemical_list: D005293:Ferritins; D001052:Apoferritins