research article
Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis
2007
We describe a point mutation creating an additional ATG codon in the 5' untranslated region (UTR) of the HAMP gene, in a patient with juvenile hemochromatosis. By transient in vitro transfection studies, we provide evidence that the additional ATG is functional and prevents normal hepcidin production by inducing an aberrant translation initiation of the pre-hepcidin mRNA.
Type
research article
Author(s)
Date Issued
2007
Published in
Volume
92
Issue
1
Start page
127
End page
8
Subjects
Editorial or Peer reviewed
NON-REVIEWED
Written at
OTHER
EPFL units
Available on Infoscience
April 26, 2010
Use this identifier to reference this record