Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemochromatosis, in Greece

Haematologica. 2004 Jun;89(6):742-3.

Abstract

Mutations of the HJV gene, which maps on chromosome 1q21, underlie most cases of juvenile hemochromatosis. We evaluated the frequency of the most common mutation (G320V) of the HJV gene in the Greek population, since 50% of cases of hereditary hemochromatosis in Greece carry mutations of the HJV gene.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • GPI-Linked Proteins
  • Greece / epidemiology
  • Hemochromatosis / genetics*
  • Hemochromatosis Protein
  • Humans
  • Membrane Proteins / genetics*
  • Molecular Epidemiology
  • Mutation, Missense*
  • Prevalence

Substances

  • GPI-Linked Proteins
  • HJV protein, human
  • Hemochromatosis Protein
  • Membrane Proteins