论文信息 - Identification of a novel mutation (C321X) in HJV.

Identification of a novel mutation (C321X) in HJV.

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.

N. Andrews | M. Fleming | I. Rubio-Aliaga | F. Huang | J. Kushner

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