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Article

Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data.

BMC medical genetics - 1 Jun 2005

Scotet Virginie, Le Gac Gérald, Mérour Marie-Christine, Mercier Anne-Yvonne, Chanu Brigitte, Ka Chandran, Mura Catherine, Nousbaum Jean-Baptiste, Férec Claude

Abstract excerpt

BACKGROUND: Hereditary hemochromatosis (HH) is a common inherited disorder of iron metabolism in Northern European populations. The discovery of a candidate gene in 1996 (HFE), and of its main mutation (C282Y), has radically altered the way to diagnose this disease. The aim of this study was to assess the impact of the HFE gene discovery on the clinical presentation and epidemiology of HH. METHODS: We studied our...

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Identifiers

PMID: 15929798
DOI: 10.1186/1471-2350-6-24
PMCID: PMC1180708

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HFE

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