Identification of a novel mutation (C321X) in HJV.

Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Huang, FW; Rubio-Aliaga, I; Kushner, JP; Andrews, NC; Fleming, MD

Published Date

  • October 1, 2004

Published In

Volume / Issue

  • 104 / 7

Start / End Page

  • 2176 - 2177

PubMed ID

  • 15138164

Pubmed Central ID

  • 15138164

International Standard Serial Number (ISSN)

  • 0006-4971

Digital Object Identifier (DOI)

  • 10.1182/blood-2004-01-0400

Language

  • eng

Conference Location

  • United States