Genetics of haemochromatosis

@article{Bomford2002GeneticsOH,
  title={Genetics of haemochromatosis},
  author={Adrian B Bomford},
  journal={The Lancet},
  year={2002},
  volume={360},
  pages={1673-1681}
}
After identification of the hereditary haemochromatosis gene HFE, and receipt of confirmation that most patients with the condition were homozygous for a single, founder mutation (C282Y), most assumed that C282Y would be a prevalent, highly penetrant mutation in a gene that plays a key part in the regulation of iron absorption and of whole-body iron homoeostasis. With carrier rates of between 10% and 15%, and a homozygote frequency of about one-in-150 in people of northern European descent… CONTINUE READING
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