Article
Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection.
Human mutation - 1 May 2001
O'Donnell K A, Tighe O, O'Neill C, Naughten E, Mayne P D, McCarthy T V, Vaughan P, Croke D T
Abstract excerpt
Mutation detection methods based upon chemical or enzymatic cleavage of DNA offer excellent detection efficiencies coupled with high throughput and low unit cost. We describe the application of the novel technique of Glycosylase Mediated Polymorphism Detection (GMPD) to the detection of two of the most common mutations of the PAH gene in the Irish population that cause phenylketonuria (PKU), R408W and I65T, which...
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