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A juvenile hemochromatosis patient homozygous for a novel deletion of cdna nucleotide 81 of hemojuvelin

Academic Article
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Overview

authors

  • Lee, Pauline
  • Promrat, K.
  • Mallette, C.
  • Flynn, M.
  • Beutler, Ernest

publication date

  • 2006

journal

  • Acta Haematologica  Journal

subject areas

  • Adult
  • Base Sequence
  • DNA, Complementary
  • Female
  • Frameshift Mutation
  • GPI-Linked Proteins
  • Guanine Nucleotides
  • Hemochromatosis
  • Homozygote
  • Humans
  • Membrane Proteins
  • Pedigree
  • Sequence Deletion
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Research

keywords

  • hemochromatosis
  • hemojuvelin
  • iron overload
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Identity

International Standard Serial Number (ISSN)

  • 0001-5792

Digital Object Identifier (DOI)

  • 10.1159/000089479

PubMed ID

  • 16424663
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Additional Document Info

start page

  • 123

end page

  • 127

volume

  • 115

issue

  • 1-2

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