title: Identification of a novel mutation in the L ferritin iron-responsive element causing hereditary hyperferritinemia-cataract syndrome.
authors.affiliation: Division of Hematology and Internal Medicine, Department of Clinical and Biological Sciences of the University of Turin, Turin, Italy. emanuela.messa@unito.it
authors.forename: E
authors.initials: E
authors.lastname: Messa
authors.forename: R M
authors.initials: RM
authors.lastname: Pellegrino
authors.forename: A
authors.initials: A
authors.lastname: Palmieri
authors.forename: S
authors.initials: S
authors.lastname: Carturan
authors.forename: D
authors.initials: D
authors.lastname: Cilloni
authors.forename: G
authors.initials: G
authors.lastname: Saglio
authors.forename: A
authors.initials: A
authors.lastname: Roetto
mesh_terms: D001052:Apoferritins / Q000235:genetics*; D001483:Base Sequence; D001665:Binding Sites / Q000235:genetics; D002386:Cataract / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005293:Ferritins / Q000097:blood*; D005799:Genes, Dominant; D006801:Humans; D035925:Iron-Regulatory Proteins / Q000235:genetics; D007558:Italy; D008297:Male; D009690:Nucleic Acid Conformation; D010375:Pedigree; D017354:Point Mutation; D011401:Promoter Regions, Genetic; D013577:Syndrome
chemical_list: D035925:Iron-Regulatory Proteins; D004247:DNA; D005293:Ferritins; D001052:Apoferritins