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Clinical Penetrance of C282Y Homozygous HFE Haemochromatosis

The prevalence of the C282Y homozygous HFE genotype is high, approximately 1 in 200 in populations of Anglo-Celtic descent, and most authorities assumed this mutation would have a high clinical penetrance. Recent studies report the clinical penetrance of C282Y homozygous hereditary haemochromatosis...

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Autori principali: Rossi, Enrico, Jeffrey, Gary P
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Australian Association of Clinical Biochemists 2004
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1880832/
https://ncbi.nlm.nih.gov/pubmed/18458707
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