title: Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene.
authors.forename: J
authors.initials: J
authors.lastname: Muñoz-Muñoz
authors.forename: N
authors.initials: N
authors.lastname: Cuadrado-Grande
authors.forename: M-I
authors.initials: MI
authors.lastname: Moreno-Carralero
authors.forename: B
authors.initials: B
authors.lastname: Hoyos-Sanabria
authors.forename: A
authors.initials: A
authors.lastname: Manubes-Guarch
authors.forename: A-F
authors.initials: AF
authors.lastname: González
authors.forename: P
authors.initials: P
authors.lastname: Tejada-Palacios
authors.forename: A
authors.initials: A
authors.lastname: Del-Castillo-Rueda
authors.forename: M-J
authors.initials: MJ
authors.lastname: Morán-Jiménez
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001052:Apoferritins / Q000235:genetics*; D002386:Cataract / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D019189:Iron Metabolism Disorders / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020218:Response Elements; D055815:Young Adult
chemical_list: C507433:FTL protein, human; D001052:Apoferritins