Hemochromatosis with HFE gene mutation in a Japanese patient.
case_report · Level V
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- Record sourced from PubMed, PMID 11513196.
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Abstract
A case of hemochromatosis associated with HFE gene mutation has never been previously reported in a Japanese patient. A 65-yr-old Japanese woman presenting with primary hemochromatosis underwent HFE mutation analyses, which demonstrated a C282Y mutation, this being the definitive gene mutation of Caucasian hemochromatosis.
Medical subject headings
- HLA Antigens
- Hemochromatosis
- Histocompatibility Antigens Class I
- Membrane Proteins
- Mutation