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 [3]

Blood

Volumn 106, Issue 8, 2005, Pages 2922-2923

  Porto, Graça ^a   Roetto, Antonella ^b   Daraio, Filomena ^b   Pinto, Jorge Pereira ^b   Almeida, Susana ^b   Bacelar, Conceição ^b   Nemeth, Elizabeth ^b   Ganz, Tomas ^b   Camaschella, Clara ^b  

^a UNIVERSITY OF PORTO   (Portugal)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

HEPCIDIN;

CASE REPORT; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; GENE MUTATION; HEMOCHROMATOSIS; HOMOZYGOSITY; HUMAN; IRON BLOOD LEVEL; LETTER; MISSENSE MUTATION; PORTUGAL; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN SYNTHESIS; STEADY STATE; TURNER SYNDROME; UNTRANSLATED REGION; UPREGULATION;

EID: 27144543714     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2005-04-1630     Document Type: Letter

References (10)

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10. Kanaji T, Okamura T, Osaki K, et al. A common genetic polymorphism in the 5'-untranslated region of the coagulation factor XII gene is associated with low translation efficiency and decrease in plasma factor XII level. Blood. 1998;6:2010-2014.