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  • Title: Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.
    Author: Guldberg P, Henriksen KF, Güttler F.
    Journal: Genomics; 1993 Jul; 17(1):141-6. PubMed ID: 8406445.
    Abstract:
    We present the results of a comprehensive study on the molecular basis of phenylketonuria (PKU) in Denmark. A strategy relying on PCR in combination with denaturing gradient gel electrophoresis for analyzing the coding sequence and splice site junctions of the phenylalanine hydroxylase gene allowed us to detect a molecular defect on 99% of 308 Danish PKU chromosomes. The mutational spectrum consists of 35 different mutations, including 23 missense mutations, 5 splice mutations, 4 nonsense mutations, and 3 deletions. Seventeen of these mutations have not been reported previously. The mutation detection assay presented in this report offers a simple and reliable methodological entity that can be applied to rapid diagnosis and carrier detection of phenylketonuria in any population, irrespective of the frequency and distribution of mutations.
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