title: Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype.
authors.forename: Muriel
authors.initials: M
authors.lastname: Giansily-Blaizot
authors.forename: Séverine
authors.initials: S
authors.lastname: Cunat
authors.forename: Grégory
authors.initials: G
authors.lastname: Moulis
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Schved
authors.forename: Patricia
authors.initials: P
authors.lastname: Aguilar-Martinez
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics*; D001052:Apoferritins / Q000235:genetics*; D001483:Base Sequence; D002386:Cataract / Q000151:congenital / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006720:Homozygote; D006801:Humans; D019189:Iron Metabolism Disorders / Q000151:congenital / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D013577:Syndrome
chemical_list: D020121:5' Untranslated Regions; D001052:Apoferritins