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Article

HIF1A: A Putative Modifier of Hemochromatosis.

International journal of molecular sciences - 27 Jan 2021

Pelucchi Sara, Ravasi Giulia, Arosio Cristina, Mauri Mario, Piazza Rocco, Mariani Raffaella, Piperno Alberto

Abstract excerpt

HFE-related hereditary hemochromatosis (HH) is characterized by marked phenotypic heterogeneity. Homozygosity for p.C282Y is a low penetrance genotype suggesting that the HFE-HH is a multifactorial disease resulting from a complex interaction involving a major gene defect, genetic background and environmental factors. We performed a targeted NGS-based gene panel to identify new candidate modifiers by using an...

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Identifiers

PMID: 33513852
DOI: 10.3390/ijms22031245
PMCID: PMC7865586

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