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Article

Effect of the A736V TMPRSS6 polymorphism on the penetrance and clinical expression of hereditary hemochromatosis.

Journal of hepatology - 1 Dec 2012

Valenti Luca, Fracanzani Anna Ludovica, Rametta Raffaela, Fraquelli Mirella, Soverini Giulia, Pelusi Serena, Dongiovanni Paola, Conte Dario, Fargion Silvia

Abstract excerpt

BACKGROUND & AIMS: Hereditary hemochromatosis (HH) is most frequently related to homozygosity for the p.C282Y HFE mutation (C282Y(+/+)), hampering hepcidin induction in response to iron. The rs855791 polymorphism, encoding for the p.A736V variant of TMPRSS6 regulating hepcidin, influences iron status in the population. The aim of this study was to assess the influence of rs855791 on the penetrance and clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Regulation, Enzymologic
Share to TMPRSS6 gene
Share to Genotype
Share to Hemochromatosis
Share to Logistic Models
Share to Membrane Proteins
Share to Polymorphism, Genetic
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Source

Identifiers

PMID: 22885719
DOI: 10.1016/j.jhep.2012.07.041

Genes

TMPRSS6
HFE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Effect of the A736V TMPRSS6 polymorphism on the penetrance and clinical expression of hereditary hemochromatosis.PMID 22885719Read ↗

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