Article
Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
Molecular genetics and metabolism - 1 Jun 2012
Groselj Urh, Tansek Mojca Zerjav, Kovac Jernej, Hovnik Tinka, Podkrajsek Katarina Trebusak, Battelino Tadej
Abstract excerpt
Mutational spectrum of the phenylalanine hydroxylase (PAH) deficiency was investigated in 107 families (90% of the Slovene PKU population). The entire coding region of the PAH gene was analyzed with dHPLC to select the samples where subsequently the automated sequencing analysis was performed. MLPA analysis was performed to identify large deletions, which were later confirmed with long-range PCR. Correlations...
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