Article
Effects of highly conserved major histocompatibility complex (MHC) extended haplotypes on iron and low CD8+ T lymphocyte phenotypes in HFE C282Y homozygous hemochromatosis patients from three geographically distant areas.
PloS one - 1 Jan 2013
Costa Mónica, Cruz Eugénia, Barton James C, Thorstensen Ketil, Morais Sandra, da Silva Berta M, Pinto Jorge P, Vieira Cristina P, Vieira Jorge, Acton Ronald T, Porto Graça
Abstract excerpt
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 SNP...
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