Article
Hemochromatosis with HFE gene mutation in a Japanese patient.
The American journal of gastroenterology - 1 Aug 2001
Sohda T, Okubo R, Kamimura S, Ohkawara T
Abstract excerpt
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.
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