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Article

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

European journal of human genetics : EJHG - 1 Jul 1999

Murphy M, McHugh B, Tighe O, Mayne P, O'Neill C, Naughten E, Croke D T

Abstract excerpt

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...

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PMID: 10439960
DOI: 10.1038/sj.ejhg.5200327

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GALT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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