Hemochromatosis with HFE gene mutation in a Japanese patient

Authors
Sohda, T Okubo, R Kamimura, S Ohkawara, T
Citation
T. Sohda et al., Hemochromatosis with HFE gene mutation in a Japanese patient, AM J GASTRO, 96(8), 2001, pp. 2487-2488
Citations number
12
Categorie Soggetti
Gastroenerology and Hepatology
Journal title
AMERICAN JOURNAL OF GASTROENTEROLOGY
ISSN journal
00029270 → ACNP
Volume
96
Issue
8
Year of publication
2001
Pages
2487 - 2488
Database
ISI
SICI code
0002-9270(200108)96:8<2487:HWHGMI>2.0.ZU;2-B
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 prese nting with primary hemochromatosis underwent HFE mutation analyses, which d emonstrated a C282Y mutation, this being the definitive gene mutation of Ca ucasian hemochromatosis.