Article
Linkage disequilibrium analysis in Australian haemochromatosis patients indicates bipartite association with clinical expression.
Journal of hepatology - 1 Jul 1999
Pratiwi R, Fletcher L M, Pyper W R, Do K A, Crawford D H, Powell L W, Jazwinska E C
Abstract excerpt
BACKGROUND/AIMS: Hereditary haemochromatosis shows a wide variation in phenotypic expression, which is thought to be due, in part, to genetic factors. A single missense mutation in HFE, leading to an amino acid substitution (C282Y) has been shown to be the causative mutation, clearly responsible for clinical expression of the disorder. Since homozygosity for the C282Y mutation can give rise to a disorder which...
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