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={Miriam Murphy and Brian McHugh and Orna Tighe and Philip D. Mayne and Charles O'Neill and Eileen R. Naughten and David T. Croke},
  journal={European Journal of Human Genetics},
  year={1999},
  volume={7},
  pages={549-554}
}
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… Expand
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