Definition of C282Y mutation in a hereditary hemochromatosis family from Turkey.

Abstract excerpt

Hereditary hemochromatosis is an autosomal recessive disorder associated with the mutation of the HFE gene. C282Y and H63D mutations in this gene have been described. Hereditary hemochromatosis is primarily associated with the C282Y mutation; the importance of H63D is not well known. In previously reported studies, the C282Y mutation was not detected in Turkey. We herein present a family in which the C282Y...

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