HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload
2010
In a recent paper, Island and colleagues[1][1] described a heterozygous hepcidin ( HAMP ) promoter mutation, nc.- 153C>T, which in association with HFE p.C282Y homozygosity appeared to lead to very severe iron overload (IO). They demonstrated in vitro that this HAMP mutation decreases
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