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

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 asse...

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Hlavní autoři: Scotet, Virginie, Le Gac, Gérald, Mérour, Marie-Christine, Mercier, Anne-Yvonne, Chanu, Brigitte, Ka, Chandran, Mura, Catherine, Nousbaum, Jean-Baptiste, Férec, Claude
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2005
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180708/
https://ncbi.nlm.nih.gov/pubmed/15929798
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-6-24
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