Identification of a novel mutation (C321X) in HJV.
Publication
, Journal Article
Huang, FW; Rubio-Aliaga, I; Kushner, JP; Andrews, NC; Fleming, MD
Published in: Blood
October 1, 2004
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.
Duke Scholars
Published In
Blood
DOI
ISSN
0006-4971
Publication Date
October 1, 2004
Volume
104
Issue
7
Start / End Page
2176 / 2177
Location
United States
Related Subject Headings
- Protein Structure, Tertiary
- Mutation, Missense
- Mutation
- Middle Aged
- Membrane Proteins
- Male
- Liver
- Iron
- Immunology
- Humans
Citation
APA
Chicago
ICMJE
MLA
NLM
Huang, F. W., Rubio-Aliaga, I., Kushner, J. P., Andrews, N. C., & Fleming, M. D. (2004). Identification of a novel mutation (C321X) in HJV. Blood, 104(7), 2176–2177. https://doi.org/10.1182/blood-2004-01-0400
Huang, Franklin W., Isabel Rubio-Aliaga, James P. Kushner, Nancy C. Andrews, and Mark D. Fleming. “Identification of a novel mutation (C321X) in HJV.” Blood 104, no. 7 (October 1, 2004): 2176–77. https://doi.org/10.1182/blood-2004-01-0400.
Huang FW, Rubio-Aliaga I, Kushner JP, Andrews NC, Fleming MD. Identification of a novel mutation (C321X) in HJV. Blood. 2004 Oct 1;104(7):2176–7.
Huang, Franklin W., et al. “Identification of a novel mutation (C321X) in HJV.” Blood, vol. 104, no. 7, Oct. 2004, pp. 2176–77. Pubmed, doi:10.1182/blood-2004-01-0400.
Huang FW, Rubio-Aliaga I, Kushner JP, Andrews NC, Fleming MD. Identification of a novel mutation (C321X) in HJV. Blood. 2004 Oct 1;104(7):2176–2177.
Published In
Blood
DOI
ISSN
0006-4971
Publication Date
October 1, 2004
Volume
104
Issue
7
Start / End Page
2176 / 2177
Location
United States
Related Subject Headings
- Protein Structure, Tertiary
- Mutation, Missense
- Mutation
- Middle Aged
- Membrane Proteins
- Male
- Liver
- Iron
- Immunology
- Humans