Article
Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.
Lancet (London, England) - 19 Jan 2002
Beutler Ernest, Felitti Vincent J, Koziol James A, Ho Ngoc J, Gelbart Terri
Abstract excerpt
BACKGROUND: There has been much interest in screening populations for disease-associated mutations. A favoured candidate has been the HFE gene, mutations of which are the most common cause of haemochromatosis in the European population. About five people in 1000 are homozygotes for the 845G-->A mutation, but little is known of how many have mutation-caused clinical manifestations. METHODS: We screened 41038...
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