title: [New mutation in a Spanish family with hereditary hyperferritinemia-cataract syndrome].
authors.affiliation: Laboratorio de Bioquímica Clínica, Hospital Universitario Puerto Real, Puerto Real, Cádiz, España. Electronic address: jdsantotoribioc@gmail.com.
authors.forename: José Diego
authors.initials: JD
authors.lastname: Santotoribio
authors.affiliation: Laboratorio de Bioquímica Clínica, Hospital Universitario Puerto Real, Puerto Real, Cádiz, España.
authors.forename: Ángela
authors.initials: Á
authors.lastname: García de la Torre
authors.affiliation: Laboratorio de Bioquímica Clínica, Hospital Universitario Puerto Real, Puerto Real, Cádiz, España.
authors.forename: Consuelo
authors.initials: C
authors.lastname: Cañavate Solano
authors.affiliation: Servicio de Medicina Interna, Clínica Santa Isabel, Sevilla, España.
authors.forename: Arturo
authors.initials: A
authors.lastname: Toral Peña
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics; D000328:Adult; D002386:Cataract / Q000151:congenital* / Q000235:genetics; D005260:Female; D005293:Ferritins / Q000235:genetics*; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D007501:Iron; D019189:Iron Metabolism Disorders / Q000151:congenital* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D013030:Spain
chemical_list: D020121:5' Untranslated Regions; D005293:Ferritins; D007501:Iron