A 53-year-old man sees his family physician with concerns that his skin is “bronzing”- Figure
Figure- Bronze skin and diabetes, a sign of hemochromatosis
He is found to have diabetes as well as an elevated ferritin (a sign of iron over load).The physician suspects hemochromatosis and finds the patient carries a mutation where tyrosine is substituted for cysteine at position 282(C282Y) of the HFE gene. The patient is diagnosed with hemochromatosis, which is a disease that results from which type of mutation?
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