Article
Concordance of iron indices in homozygote and heterozygote sibling pairs in hemochromatosis families: implications for family screening.
Journal of hepatology - 1 Sept 2002
Whiting Peter W, Fletcher Linda M, Dixon Jeanette K, Gochee Peter, Powell Lawrie W, Crawford Darrell H G
Abstract excerpt
BACKGROUND/AIMS: Concordance of iron indices between same-sex siblings homozygous for the cysteine-to-tyrosine substitution at amino acid 282 (C282Y) mutation suggests that the variable phenotype in hereditary hemochromatosis is caused by genetic factors. Concordance of iron indices between same-sex heterozygous sibling pairs would provide further evidence of genetic modifiers of disease expression, and guidance...
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