Identification of a novel mutation (C321X) in HJV.
نویسندگان
چکیده
Juvenile hemochromatosis is a rare autosomal recessive disorder characterized by the early onset of severe iron overload. We report the occurrence of compound heterozygous mutations in hemojuvelin (HJV), including a termination codon, in a patient with juvenile hemochromatosis but no family history of iron disorders.
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ورودعنوان ژورنال:
- Blood
دوره 104 7 شماره
صفحات -
تاریخ انتشار 2004