Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis

@article{Papanikolaou2004MutationsIH,
  title={Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis},
  author={George Papanikolaou and Mark E. Samuels and Erwin H Ludwig and Marcia L E Macdonald and Patrick L. Franchini and Marie-Pierre Dub{\'e} and Lisa Andres and J Macfarlane and Nikos Sakellaropoulos and Marianna Politou and Elizabeta Nemeth and Jay Daniel Thompson and Jenni K Risler and Catherine Zaborowska and Ryan Babakaiff and Christopher C Radomski and Terry D Pape and Owen Davidas and John I Christakis and Pierre Brissot and Gillian Lockitch and Tomas Ganz and Michael R. Hayden and Yigal Paul Goldberg},
  journal={Nature Genetics},
  year={2004},
  volume={36},
  pages={77-82}
}
Juvenile hemochromatosis is an early-onset autosomal recessive disorder of iron overload resulting in cardiomyopathy, diabetes and hypogonadism that presents in the teens and early 20s (refs. 1,2). Juvenile hemochromatosis has previously been linked to the centromeric region of chromosome 1q (refs. 3–6), a region that is incomplete in the human genome assembly. Here we report the positional cloning of the locus associated with juvenile hemochromatosis and the identification of a new gene… CONTINUE READING
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