title: Absence of hepcidin gene mutations in 10 Italian patients with primary iron overload.
abstract: We analyzed the hepcidin gene in 10 Italian patients with hemochromatosis not related to C282Y, H63D or other less frequent HFE mutations, nor to Y250X in TFR2. The sequencing of the whole hepcidin coding region, intron-exon junctions, 5' and partially 3'UTRs, did not reveal any alteration in the studied patients.
authors.forename: Silvia
authors.initials: S
authors.lastname: Majore
authors.forename: Francesco
authors.initials: F
authors.lastname: Binni
authors.forename: Bianca Maria
authors.initials: BM
authors.lastname: Ricerca
authors.forename: Gloria
authors.initials: G
authors.lastname: Brioli
authors.forename: Paola
authors.initials: P
authors.lastname: Grammatico
mesh_terms: D000328:Adult; D000368:Aged; D023181:Antimicrobial Cationic Peptides / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics*; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014157:Transcription Factors / Q000502:physiology; D051720:Upstream Stimulatory Factors
chemical_list: D023181:Antimicrobial Cationic Peptides; D004268:DNA-Binding Proteins; C578702:HAMP protein, human; C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014157:Transcription Factors; D051720:Upstream Stimulatory Factors