Article
Detection of an unusual combination of mutations in the HFE gene for hemochromatosis.
Genetic testing - 1 Jan 2000
Thorstensen K, Asberg A, Kvitland M, Svaasand E, Hveem K, Bjerve K S
Abstract excerpt
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 C282Y and the H63D mutations are mutually exclusive is...
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