Article
Haptoglobin modifies the hemochromatosis phenotype in mice.
Blood - 15 Apr 2005
Tolosano Emanuela, Fagoonee Sharmila, Garuti Cinzia, Valli Linda, Andrews Nancy C, Altruda Fiorella, Pietrangelo Antonello
Abstract excerpt
Classic hereditary hemochromatosis (HH) is a common genetic disorder of iron metabolism caused by a mutation in the HFE gene. Whereas the prevalence of the mutation is very high, the clinical penetrance of the disease is low, suggesting that the HFE mutation is a necessary but not sufficient cause of clinical HH. Several candidate modifier genes have been proposed in mice and humans, including haptoglobin....
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