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Blood, 1 October 2004, Vol. 104, No. 7, pp. 2176-2177. Prepublished online as a Blood First Edition Paper on May 11, 2004; DOI 10.1182/blood-2004-01-0400. This Article Full Text (PDF) All Versions of this Article: 2004-01-0400v1 104/7/2176    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Huang, F. W Articles by Fleming, M. D Search for Related Content PubMed PubMed Citation Articles by Huang, F. W Articles by Fleming, M. D Related Collections Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted February 3, 2004 Accepted April 13, 2004 Identification of a novel mutation (C321X) in HJV Franklin W Huang, Isabel Rubio-Aliaga, James P Kushner, Nancy C Andrews, and Mark D Fleming* Division of Medical Sciences, Harvard University, Boston, MA, USA; Pediatrics, Children's Hospital and Harvard Medical School, Boston, MA, USA Pediatrics, Children's Hospital and Harvard Medical School, Boston, MA, USA; Howard Hughes Medical Institute, Boston, MA, USA Medicine, University of Utah School of Medicine, Salt Lake City, UT, USA Pediatrics, Children's Hospital and Harvard Medical School, Boston, MA, USA; Howard Hughes Medical Institute, Boston, MA, USA; Pediatric Oncology, Dana Farber Cancer Institute, Boston, MA, USA Division of Medical Sciences, Harvard University, Boston, MA, USA; Pathology, Children's Hospital and Harvard Medical School, Boston, MA, USA * Corresponding author; email: mark.fleming{at}childrens.harvard.edu. Juvenile hemochromatosis is a rare autosomal recessive disorder characterized by the early onset of severe iron overload. Recently, mutations causing juvenile hemochromatosis have been identified in a novel gene, hemojuvelin (HJV). We report the occurrence of compound heterozygous mutations in HJV, including a termination codon, in a patient with juvenile hemochromatosis, but no prior family history of iron disorders. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: Hemojuvelin and hepcidin: the keys to JH? Eric Nisbet-Brown Blood 2004 104: 1918-1919. [Full Text] [PDF] This article has been cited by other articles: L. Silvestri, A. Pagani, C. Fazi, G. Gerardi, S. Levi, P. Arosio, and C. Camaschella Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis Blood, May 15, 2007; 109(10): 4503 - 4510. [Abstract] [Full Text] [PDF] A. Donovan, C. N. Roy, and N. C. Andrews The Ins and Outs of Iron Homeostasis Physiology, April 1, 2006; 21(2): 115 - 123. [Abstract] [Full Text] [PDF] C. Camaschella Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders Blood, December 1, 2005; 106(12): 3710 - 3717. [Abstract] [Full Text] [PDF] A.-S. Zhang, A. P. West Jr., A. E. Wyman, P. J. Bjorkman, and C. A. Enns Interaction of Hemojuvelin with Neogenin Results in Iron Accumulation in Human Embryonic Kidney 293 Cells J. Biol. Chem., October 7, 2005; 280(40): 33885 - 33894. [Abstract] [Full Text] [PDF] A. Janosi, H. Andrikovics, K. Vas, A. Bors, M. Hubay, Z. Sapi, and A. Tordai Homozygosity for a novel nonsense mutation (G66X) of the HJV gene causes severe juvenile hemochromatosis with fatal cardiomyopathy Blood, January 1, 2005; 105(1): 432 - 432. [Full Text] [PDF]

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