Hereditary persistence of alpha-fetoprotein is due to both proximal and distal hepatocyte nuclear factor-1 site mutations.

@article{Alj2004HereditaryPO,
  title={Hereditary persistence of alpha-fetoprotein is due to both proximal and distal hepatocyte nuclear factor-1 site mutations.},
  author={Youssef Alj and Maria T Georgiakaki and Jean-François Savouret and Fr{\'e}d{\'e}ric Mal and Pierre Attali and Gilles M Pelletier and Catherine Fourr{\'e} and Edwin Milgrom and Catherine Buffet and Anne Guiochon-Mantel and Gabriel Perlemuter},
  journal={Gastroenterology},
  year={2004},
  volume={126 1},
  pages={
          308-17
        }
}
BACKGROUND AND AIMS The molecular mechanism of hereditary persistence of alpha-fetoprotein (HPAFP) has been previously described in a large Scottish family, consisting of a -119G>A substitution in the distal hepatocyte nuclear factor 1 (HNF-1) binding site of the alpha-fetoprotein (AFP) gene promoter. We report here the molecular mechanisms of HPAFP in 2 new unrelated families. METHODS Family 1 was of Bengali origin, and family 2 was Italian. Four of 5 subjects (family 1) and 3 of 9 (family 2… CONTINUE READING

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