Article
Simultaneous detection of the C282Y, H63D and S65C mutations in the hemochromatosis gene using quenched-FRET real-time PCR.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Oct 2008
Moysés C B, Moreira E S, Asprino P F, Guimarães G S, Alberto F L
Abstract excerpt
Hereditary hemochromatosis (HH) is a common autosomal disorder of iron metabolism mainly affecting Caucasian populations. Three recurrent disease-associated mutations have been detected in the hemochromatosis gene (HFE): C282Y, H63D, and S65C. Although HH phenotype has been associated with all three mutations, C282Y is considered the most relevant mutation responsible for hemochromatosis. Clinical complications...
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