Analysis of haemochromatosis gene mutations in a population from the Mediterranean Basin.

  title={Analysis of haemochromatosis gene mutations in a population from the Mediterranean Basin.},
  author={Salvatore Campo and Tea Restuccia and Daniela Villari and Giuseppina Raffa and Domenico Cucinotta and Giovanni Squadrito and Teresa Pollicino and Giovanni Raimondo},
  volume={21 4},
BACKGROUND/AIMS The C282Y mutation in the haemochromatosis gene (HFE) located on chromosome 6 has been identified as the main genetic basis of hereditary haemochromatosis (HH). Two more mutations of that gene, H63D and S65C, appear to be associated with milder forms of HH. A high allele frequency for C282Y and H63D mutations was reported in populations from North Europe, while incomplete information is available for individuals from the Mediterranean Basin where C282Y homozygotes comprise a… CONTINUE READING


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