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  • Title: Frequencies of the most common mutations responsible for phenylketonuria in Poland.
    Author: Zekanowski C, Nowacka M, Zgulska M, Horst J, Cabalska B, Mazurczak T.
    Journal: Mol Cell Probes; 1994 Aug; 8(4):323-4. PubMed ID: 7870074.
    Abstract:
    We screened 91 Polish phenylketonuric (PKU) children for the presence of 18 common mutations in the phenylalanine hydroxylase (PAH) gene, and 75.7% of PAH alleles were identified. The R408W mutation accounted for 54.9% of PAH mutant alleles. In the other 20.8%, eight mutations were detected: R158Q (6.6%), IVS10 (4.9%), IVS12 (2.7%), R261Q (2.2%), G272ter (1.65%), Y414C (1.1%), R252W (1.1%) and P281L (0.54%). Correlations between genotype and clinical phenotype were described.
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