Identification of a novel mutation (C321X) in HJV-Reference-Cited by-同舟云学术

Identification of a novel mutation (C321X) in HJV

Published:2004-10-01 Issue:7 Volume:104 Page:2176-2177
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Huang Franklin W.¹,Rubio-Aliaga Isabel¹,Kushner James P.¹,Andrews Nancy C.¹,Fleming Mark D.¹

Affiliation:

1. From the Division of Medical Sciences, Harvard University, Boston; the Departments of Pediatrics and Pathology, Children's Hospital Boston and Harvard Medical School; Howard Hughes Medical Institute, Boston; the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA; and the Department of Medicine, University of Utah School of Medicine, Salt Lake City.

Abstract

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)

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/104/7/2176/1701893/zh801904002176.pdf

Reference9 articles.

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3. Roetto A, Totaro A, Cazzola M, et al. Juvenile hemochromatosis locus maps to chromosome 1q. Am J Hum Genet. 1999;64: 1388-1393.

4. Papanikolaou G, Politou M, Roetto A, et al. Linkage to chromosome 1q in Greek families with juvenile hemochromatosis. Blood Cells Mol Dis. 2001;27: 744-749.

5. Rivard SR, Lanzara C, Grimard D, et al. Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population. Eur J Hum Genet. 2003;11: 585-589.

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