Article
SNP and haplotype analysis reveals new HFE variants associated with iron overload trait.
Human mutation - 1 Apr 2011
Yang Yizhen, Férec Claude, Mura Catherine
Abstract excerpt
Hereditary hemochromatosis is a common-recessive-autosomal disease characterized by progressive iron overload, and its prevalence correlates with c.845G>A (p. C282Y) mutation of the HFE gene. Two other variants c.187C>G and c.193A>T are associated with a mild iron overload phenotype. The correlation studies have revealed incompletely penetrance of the HFE mutations, as well as the lack of mutation on some...
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