Publications

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the mutation spectrum of hyperphenylalaninaemia in the republic of ireland: the population history of the irish revisited.phenylketonuric and hyperphenylalaninaemic patients in the population of the republic of ireland were screened for mutations at the human phenylalanine hydroxylase (pah) locus. a composite data set for the island of ireland was generated by merging the findings of this study with extant data for northern ireland. analysis of this data on the basis of the four historic provinces (munster, leinster, connacht and ulster) revealed genetic diversity that is informative in terms of demographic forces ...200212173030
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