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Effects of highly conserved major histocompatibility complex (MHC) extended hap...

Costa, M.; Cruz, E.; Barton, J.; Thorstensen, K.; Morais, S.; da Silva, B.; Pinto, J.; Vieira, C.; Vieira, J.; Acton, R.; Porto, G.

Hereditary Hemochromatosis (HH) is a recessively inherited disorder of iron overload occurring commonly in subjects homozygous for the C282Y mutation in HFE gene localized on chromosome 6p21.3 in linkage disequilibrium with the human leukocyte antigen (HLA)-A locus. Although its genetic homogeneity, the phenotypic expression is variable suggesting the presence of modifying factors. One such genetic factor, a SN...


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