Mutational and phenotypic analysis of hyperphenylalaninaemia in Southern Ireland
Citation:Kate O'Donnell, 'Mutational and phenotypic analysis of hyperphenylalaninaemia in Southern Ireland', [thesis], Trinity College (Dublin, Ireland). School of Biochemistry and Immunology, 2000, pp 305
ODonnell TCD THESIS 5875 Mutational and.pdf (PDF) 153.5Mb
Phenylketonuria (PKU) is the most common inherited defect of amino acid metabolism in the Irish population occurring at a frequency of 1/4,500 live births. It is caused by a deficiency of the hepatic enzyme Phenylalanine Hydroxylase (PAH). To date, over 400 mutations have been identified at the PAH locus. These mutations cause varying degrees of reduction in enzyme activity and combine to produce a wide range of phenotypes. The primary aim of this study was to determine the spectrum of mutations responsible for PAH deficiency in the Irish population.
Author: O'Donnell, Kate
Advisor:Croke, David T.
Publisher:Trinity College (Dublin, Ireland). School of Biochemistry and Immunology
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Type of material:thesis
Availability:Full text available