Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers

@article{Murphy1999GeneticBO,
  title={Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers},
  author={M. Murphy and Brian J McHugh and O. Tighe and P. Mayne and C. O'Neill and E. Naughten and D. Croke},
  journal={European Journal of Human Genetics},
  year={1999},
  volume={7},
  pages={549-554}
}
  • M. Murphy, Brian J McHugh, +4 authors D. Croke
  • Published 1999
  • Biology, Medicine
  • European Journal of Human Genetics
  • Transferase-deficient galactosaemia, resulting from deficient activity of galactose-1-phosphate uridyltransferase (GALT), is relatively common among the Travellers, an endogamous group of commercial/industrial nomads within the Irish population. This study has estimated the incidence of classical transferase-deficient galactosaemia in Ireland and determined the underlying GALT mutation spectrum in the Irish population and in the Traveller group. Based upon a survey of newborn screening records… CONTINUE READING
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