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Blood, 15 June 2004, Vol. 103, No. 12, pp. 4669-4671. Prepublished online as a Blood First Edition Paper on February 24, 2004; DOI 10.1182/blood-2004-01-0072. This Article Full Text (PDF) Supplemental Tables All Versions of this Article: 2004-01-0072v1 103/12/4669    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 Lee, P. L Articles by Barton, J. C Search for Related Content PubMed PubMed Citation Articles by Lee, P. L Articles by Barton, J. C Social Bookmarking                   What's this? Submitted January 8, 2004 Accepted February 11, 2004 Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin Pauline L Lee, Ernest Beutler*, Sreenivas V Rao, and James C Barton Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA, USA Carolina Health Care, Florence, SC, USA Southern Iron Disorders Center, Birmingham, AL, USA * Corresponding author; email: beutler{at}scripps.edu. Juvenile hemochromatosis is an early-onset form of iron storage disease characterized by hypogonadotrophic hypogonadism and cardiomyopathy. Recently the putative causative gene (LOC148738) encoding a protein designated hemojuvelin was cloned. The previously proposed designation of this gene as HFE2 is contrary to established convention, because it is not a member of the HFE family, and we suggest that it be designated HJV. We sequenced this gene in members of two previously reported kinships that manifest typical juvenile hemochromatosis. In one kinship, two previously undescribed mutations of HJV were identified, C80R and L101P. In the second kinship, two previously identified mutations, G320V and I222N, were found These studies confirm that mutations in HJV cause juvenile hemochromatosis. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: B. A. C. van Dijk, E. H. J. M. Kemna, H. Tjalsma, S. M. Klaver, E. T. G. Wiegerinck, J.-P. Goossens, P. H. Th. J. Slee, M. H. Breuning, and D. W. Swinkels Effect of the new HJV-L165X mutation on penetrance of HFE Blood, June 15, 2007; 109(12): 5525 - 5526. [Full Text] [PDF] P. Aguilar-Martinez, C. Y. Lok, S. Cunat, E. Cadet, K. Robson, and J. Rochette Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl Haematologica, March 1, 2007; 92(3): 421 - 422. [Abstract] [Full Text] [PDF] A. D. Ma and M. M. 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