title: A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome.
authors.forename: P
authors.initials: P
authors.lastname: Aguilar-Martinez
authors.forename: C
authors.initials: C
authors.lastname: Biron
authors.forename: C
authors.initials: C
authors.lastname: Masmejean
authors.forename: P
authors.initials: P
authors.lastname: Jeanjean
authors.forename: J F
authors.initials: JF
authors.lastname: Schved
mesh_terms: D000328:Adult; D002386:Cataract / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005293:Ferritins / Q000097:blood* / Q000235:genetics*; D005786:Gene Expression Regulation / Q000187:drug effects; D005796:Genes; D006801:Humans; D007501:Iron / Q000494:pharmacology; D008297:Male; D017354:Point Mutation; D013577:Syndrome
chemical_list: D005293:Ferritins; D007501:Iron