Juvenile hemochromatosis due to G320V/Q116X compound heterozygosity of hemojuvelin in an Irish patient.

F Daraio,E Ryan,F Gleeson,A Roetto,J Crowe,C Camaschella

Blood Cells, Molecules, and Diseases（2005）

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摘要

Hemojuvelin (HJV) is a recently discovered gene responsible for 1q-linked juvenile hemochromatosis. The majority of mutations characterized in this gene are rare and private, except G320V, identified in patients from different countries.

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关键词

Iron metabolism,Juvenile hemochromatosis,Hemojuvelin

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