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} }
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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