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Genetic abnormalities and juvenile hemochromatosis: Mutations of the hjv gene encoding hemojuvelin

Academic Article
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Overview

authors

  • Lee, Pauline
  • Beutler, Ernest
  • Rao, S. V.
  • Barton, J. C.

publication date

  • June 2004

journal

  • Blood  Journal

abstract

  • 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. We suggest that it be designated HJV. We sequenced this gene in members of 2 previously reported kinships that manifest typical juvenile hemochromatosis. In one kinship, 2 previously undescribed mutations of HJV were identified, c.238T>C (C80R) and c.302T>C (L101P). In the second kinship, 2 previously identified mutations, G320V and I222N, were found. These studies confirm that mutations in HJV cause juvenile hemochromatosis.

subject areas

  • Adolescent
  • Adult
  • Alabama
  • Amino Acid Substitution
  • Child
  • Chromosome Aberrations
  • DNA Primers
  • European Continental Ancestry Group
  • Female
  • GPI-Linked Proteins
  • Genotype
  • Hemochromatosis
  • Humans
  • Male
  • Membrane Proteins
  • Mutation
  • Pedigree
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Identity

International Standard Serial Number (ISSN)

  • 0006-4971

Digital Object Identifier (DOI)

  • 10.1182/blood-2004-01-0072

PubMed ID

  • 14982867
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Additional Document Info

start page

  • 4669

end page

  • 4671

volume

  • 103

issue

  • 12

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