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Article

Proprotein convertase 7 rs236918 associated with liver fibrosis in Italian patients with HFE-related hemochromatosis.

Journal of gastroenterology and hepatology - 1 Jul 2016

Pelucchi Sara, Galimberti Stefania, Greni Federico, Rametta Raffaela, Mariani Raffaella, Pelloni Irene, Girelli Domenico, Busti Fabiana, Ravasi Giulia, Valsecchi Maria Grazia, Valenti Luca, Piperno Alberto

Abstract excerpt

BACKGROUND AND AIM: p.Cys282Tyr homozygosity is the prevalent genotype in (HFE)-related Hereditary Hemochromatosis with low penetrance and variable expression. However, liver cirrhosis and hepatocellular carcinoma remain the main causes of mortality in these patients. Detection of genetic modifiers identifying patients at risk for liver damage would be relevant for their clinical management. We evaluated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26868056
DOI: 10.1111/jgh.13315

Genes

HFE
PCSK7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Research trail→

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Proprotein convertase 7 rs236918 associated with liver fibrosis in Italian patients with HFE-related hemochromatosis.PMID 26868056Read ↗

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