The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis
-
Altmetric Citations
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]
Collections | ANU 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 |
Download
Items in Open Research are protected by copyright, with all rights reserved, unless otherwise indicated.
Updated: 17 November 2022/ Responsible Officer: University Librarian/ Page Contact: Library Systems & Web Coordinator