Article
GNPAT rs11558492 is not a Major Modifier of Iron Status: Study of Italian Hemochromatosis Patients and Blood Donors.
Annals of hepatology - 1 Jan 2000
Greni Federico, Valenti Luca, Mariani Raffaella, Pelloni Irene, Rametta Raffaela, Busti Fabiana, Ravasi Giulia, Girelli Domenico, Fargion Silvia, Galimberti Stefania, Piperno Alberto, Pelucchi Sara
Abstract excerpt
BACKGROUND AND AIM: HFE-related Hemochromatosis (HH) is characterized by marked phenotype heterogeneity, probably due to the combined action of acquired and genetic factors. Among them, GNPAT rs11558492 was proposed as genetic modifier of iron status, but results are still controversial. To shed light on these discrepancies, we genotyped 298 Italian p.C282Y homozygotes and 169 healthy controls. MATERIAL AND...
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