title: Hereditary hemochromatosis due to resistance to hepcidin: high hepcidin concentrations in a family with C326S ferroportin mutation.
authors: Ronald L
authors: RL
authors: Sham
authors: Pradyumna D
authors: PD
authors: Phatak
authors: Elizabeta
authors: E
authors: Nemeth
authors: Tomas
authors: T
authors: Ganz
mesh_terms: D000293:Adolescent; D023181:Antimicrobial Cationic Peptides / Q000097:blood*; D027682:Cation Transport Proteins / Q000235:genetics / Q000378:metabolism*; D002648:Child; D003545:Cysteine / Q000235:genetics / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006432:Hemochromatosis / Q000235:genetics / Q000378:metabolism*; D064451:Hepcidins; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D000098742:Ferroportin
chemical_list: D023181:Antimicrobial Cationic Peptides; D027682:Cation Transport Proteins; C578702:HAMP protein, human; D064451:Hepcidins; D000098742:Ferroportin; D003545:Cysteine