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C282Y/H63D Compound Heterozygosity Is a Low Penetrance Genotype for Iron Overload-related Disease

28 Jul 2022

Abstract excerpt

Abstract Background Hereditary hemochromatosis (HH) occurs due to mutations in the HFE gene. While the C282Y mutation is the most common genotype reported in HH, other genotypes are found less frequently, indicating variable degrees of penetrance. We studied the penetrance of the C282Y/H63D compound heterozygote genotype in developing clinically significant iron overload. Methods We have completed a retrospective...

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PMID: 36196271
DOI: 10.1093/jcag/gwac025

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