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