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Case details

A 53-year-old man sees his family physician with concerns that his skin is “bronzing”- Figure

bronze diabetes


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?

A. Silent

B. Missense

C. Nonsense

D. Frameshift

E. Deletion

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