The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis
Background & Aims: Two major mutations are defined within the hemochromatosis gene, HFE. Although the effects of the C282Y substitution have been well characterized, the clinical significance of the C282Y/H63D state remains unclear. This study assessed the phenotypic expression in C282Y/H63D subjects as compared with C282Y homozygotes. Methods: Data were obtained from 91 C282Y/H63D probands, 158 C282Y/H63D subjects identified through family screening, and 483 C282Y homozygotes. Subjects...[Show more]
|Collections||ANU Research Publications|
|Source:||Clinical Gastroenterology and Hepatology|
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