Portal de Periódicos da CAPES

Identification of a novel mutation (C321X) in HJV

2004; Elsevier BV; Volume: 104; Issue: 7 Linguagem: Inglês

10.1182/blood-2004-01-0400

1528-0020

Franklin W. Huang, Isabel Rubio‐Aliaga, James P. Kushner, Nancy C. Andrews, Mark D. Fleming,

Trace Elements in Health

Abstract 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. (Blood. 2004;104:2176-2177)