Article
Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis.
Proceedings of the National Academy of Sciences of the United States of America - 23 Dec 2003
Tomatsu Shunji, Orii Koji O, Fleming Robert E, Holden Christopher C, Waheed Abdul, Britton Robert S, Gutierrez Monica A, Velez-Castrillon Susana, Bacon Bruce R, Sly William S
Abstract excerpt
Hereditary hemochromatosis (HH) is an autosomal recessive disease characterized by iron accumulation in several organs, followed by organ damage and failure. The C282Y mutation in the HFE gene explains 80-90% of all diagnosed cases of HH in populations of northwestern European ancestry. Targeted disruption of the mouse Hfe gene (or introduction of the murine mutation analogous to the C282Y human mutation)...
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