title: Hereditary hyperferritinemia-cataract syndrome: a novel mutation in the iron-responsive element of the L-ferritin gene in a French family.
authors.forename: Laurent
authors.initials: L
authors.lastname: Garderet
authors.forename: Brigitte
authors.initials: B
authors.lastname: Hermelin
authors.forename: Norbert Claude
authors.initials: NC
authors.lastname: Gorin
authors.forename: Olivier
authors.initials: O
authors.lastname: Rosmorduc
mesh_terms: D000328:Adult; D001052:Apoferritins; D002386:Cataract / Q000097:blood* / Q000235:genetics*; D005192:Family Health; D005260:Female; D005293:Ferritins / Q000097:blood* / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007501:Iron / Q000097:blood; D035925:Iron-Regulatory Proteins / Q000097:blood / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D013577:Syndrome; D014168:Transferrin / Q000235:genetics / Q000378:metabolism
chemical_list: D035925:Iron-Regulatory Proteins; D014168:Transferrin; D005293:Ferritins; D001052:Apoferritins; D007501:Iron