Article
HFE gene mutations an Apulian population: allele frequencies.
European journal of epidemiology - 1 Jan 2003
Pietrapertosa A, Vitucci A, Campanale D, Palma A, Renni R, Delios G, Tannoia N
Abstract excerpt
Hereditary hemochromatosis (HH) is an autosomal recessive trait regarding iron metabolism frequently found in Caucasian populations. The C282Y mutation of the HFE gene, held responsible for HH, has been identified as the major genetic basis for the phenotypic expression of HH whereas two additional mutations of the HFE H63D and S65C gene appear to be associated with a milder form of HH. A high allele frequency of...
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