Detection of an unusual combination of mutations in the HFE gene for hemochromatosis.

@article{Thorstensen2000DetectionOA,
  title={Detection of an unusual combination of mutations in the HFE gene for hemochromatosis.},
  author={Ketil Thorstensen and Arne {\AA}sberg and Mona A Kvitland and Eva K Svaasand and Kristian Hveem and Kristian Sigvart Bjerve},
  journal={Genetic testing},
  year={2000},
  volume={4 4},
  pages={371-6}
}
In the present paper, we describe an individual, found as part of a screening study, being homozygous for the C282Y mutation and at the same time heterozygous for the H63D mutation in the HFE gene. Identical results were obtained by three different methods, i.e., by PCR-RFLP, by sequencing, and by melting curve analysis. Thus, the common conception that the… CONTINUE READING