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The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis

Walsh, Alisha; Dixon, J L; Lincoln, D J; Ramm , G A; Hewett, D G; Anderson, G J; Subramaniam, V N; Dodemaide, J; Cavanaugh, Juleen; Bassett, Mark; Powell, L W

Description

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]

CollectionsANU Research Publications
Date published: 2006
Type: Journal article
URI: http://hdl.handle.net/1885/19920
Source: Clinical Gastroenterology and Hepatology
DOI: 10.1016/j.cgh.2006.07.009

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