Article
Nonexpressing homozygotes for C282Y hemochromatosis: minority or majority of cases?
Molecular genetics and metabolism - 1 Jan 2000
Adams P C
Abstract excerpt
Genetic testing for the C282Y mutation of the HFE gene has been a major advance in the diagnosis of hereditary hemochromatosis. In most studies, more than 90% of typical hemochromatosis patients are homozygous for the C282Y mutation. Large-scale population screening studies in predominantly Caucasian populations have demonstrated a high prevalence of C282Y homozygotes of approximately 1 in 300. Despite this high...
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