A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter sh...

• Autor(es): Porto, G. ; Roetto, A. ; Daraio, F. ; Pinto, J. ; Almeida, S. ; Bacelar, C. ; Nemeth, E. ; Ganz, T. ; Camaschella, C.
• Data: 2005
• Identificador Persistente: http://hdl.handle.net/10400.16/441
• Origem: Repositório Científico do Centro Hospitalar do Porto
• Tipo de Documento: Artigo
• Idioma: Inglês

Descrição

Blood. 2005 Oct 15;106(8):2922-3. 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 G, Roetto A, Daraio F, Pinto JP, Almeida S, Bacelar C, Nemeth E, Ganz T, Camaschella C. PMID: 16204153 [PubMed - indexed for MEDLINE]Free Article Publication Types, MeSH Terms, SubstancesPublication Types: Letter Research Support, Non-U.S. Gov't MeSH Terms: Antimicrobial Cationic Peptides/genetics* Antimicrobial Cationic Peptides/urine Glycine/genetics* Hemochromatosis/genetics Homozygote* Humans Iron/pharmacology* Mutation/genetics Portugal Promoter Regions, Genetic/genetics* Transcription, Genetic/genetics* Up-Regulation/drug effects* Substances: Antimicrobial Cationic Peptides hepcidin Glycine Iron LinkOut - more resourcesFull Text Sources: HighWire Press EBSCO Other Literature Sources: COS Scholar Universe Medical: Genetics Home Reference - HAMP Gene - Genetics Home Reference Molecular Biology Databases: IRON - HSDB GLYCINE - HSDB