Article
HFE gene polymorphism defined by sequence-based typing of the Brazilian population and a standardized nomenclature for HFE allele sequences.
HLA - 1 Oct 2017
Campos W N, Massaro J D, Martinelli A L C, Halliwell J A, Marsh S G E, Mendes-Junior C T, Donadi E A
Abstract excerpt
The HFE molecule controls iron uptake from gut, and defects in the molecule have been associated with iron overload, particularly in hereditary hemochromatosis. The HFE gene including both coding and boundary intronic regions were sequenced in 304 Brazilian individuals, encompassing healthy individuals and patients exhibiting hereditary or acquired iron overload. Six sites of variation were detected: (1) H63D C>G...
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