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Article

Patatin-like phospholipase domain containing-3 gene I148M polymorphism, steatosis, and liver damage in hereditary hemochromatosis.

World journal of gastroenterology - 14 Jun 2012

Valenti Luca, Maggioni Paolo, Piperno Alberto, Rametta Raffaela, Pelucchi Sara, Mariani Raffaella, Dongiovanni Paola, Fracanzani Anna Ludovica, Fargion Silvia

Abstract excerpt

AIM: To investigate whether the patatin-like phospholipase domain containing-3 gene (PNPLA3) I148M polymorphism is associated with steatosis, fibrosis stage, and cirrhosis in hereditary hemochromatosis (HH). METHODS: We studied 174 consecutive unrelated homozygous for the C282Y HFE mutation of HH (C282Y+/+ HH) patients from Northern Italy, for whom the presence of cirrhosis could be determined based on...

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Identifiers

PMID: 22719190
DOI: 10.3748/wjg.v18.i22.2813
PMCID: PMC3374985

Genes

PNPLA3
HFE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Patatin-like phospholipase domain containing-3 gene I148M polymorphism, steatosis, and liver damage in hereditary hemochromatosis.PMID 22719190Read ↗

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