Article
The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association - 1 Nov 2006
Walsh Alissa, Dixon Jeannette L, Ramm Grant A, Hewett David G, Lincoln Douglas J, Anderson Gregory J, Subramaniam V Nathan, Dodemaide Julian, Cavanaugh Juleen A, Bassett Mark L, Powell Lawrie W
Abstract excerpt
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...
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