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Article

Genetic and metabolic factors are associated with increased hepatic iron stores in a selected population of p.Cys282Tyr heterozygotes.

Blood cells, molecules & diseases - 15 Mar 2010

Mariani R, Pelucchi S, Arosio C, Coletti S, Pozzi M, Paolini V, Trombini P, Piperno A

Abstract excerpt

Heterozygosity for p.Cys282YTyr is not ordinarily associated with a hemochromatosis phenotype, unless associated in the compound heterozygous state with other HFE mutations. The aims of the study were to identify factors responsible for iron overload in patients who were only heterozygous for p.Cys282Tyr at first genetic testing. Since 2001, twelve p.Cys282Tyr heterozygous patients with iron overload, defined by...

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Identifiers

PMID: 20117027
DOI: 10.1016/j.bcmd.2010.01.002

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HFE

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