Article
[Analysis of the HFE gene in a large Spanish kindred with hereditary hemochromatosis].
Medicina clinica - 27 Jan 2001
Roa S, Martín-Oterino J A, Rodríguez R E, García-Berrocal B, Sánchez-Rodríguez A, González-Sarmiento R
Abstract excerpt
BACKGROUND: Hereditary hemochromatosis (HH) is an inborn error of iron metabolism that is inherited as an autosomal recessive trait. Recently, it has been shown that the HFE gene, located telomeric to HLA-A on chromosome 6 is mutated in most patients with HH. Moreover, the phenotypic expression of hereditary hemochromatosis is influenced by sex and environmental agents such as alcohol and dietary iron intake....
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