A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron.
Porto
Graça
G
Roetto
Antonella
A
Daraio
Filomena
F
Pinto
Jorge Pereira
JP
Almeida
Susana
S
Bacelar
Conceição
C
Nemeth
Elizabeth
E
Ganz
Tomas
T
Camaschella
Clara
C
D023181:Antimicrobial Cationic Peptides / Q000235:genetics* / Q000652:urine; D005998:Glycine / Q000235:genetics*; D006432:Hemochromatosis / Q000235:genetics; D064451:Hepcidins; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000494:pharmacology*; D009154:Mutation / Q000235:genetics; D011174:Portugal; D011401:Promoter Regions, Genetic / Q000235:genetics*; D014158:Transcription, Genetic / Q000235:genetics*; D015854:Up-Regulation / Q000187:drug effects*
D023181:Antimicrobial Cationic Peptides; C578702:HAMP protein, human; D064451:Hepcidins; D007501:Iron; D005998:Glycine