Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis

C. J. van der Sijs-Bos, C. M. Diepstraten, J. A. Juyn, M. Plaisier, J. C. Giltay, F. J. van Spronsen, G. P. Smit, R. Berger, J. A. Smeitink, B. T. Poll-The, J. K. Ploos van Amstel

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Single-strand conformational analysis was used to screen for genetic defects in all thirteen exons of the phenylalanine hydroxylase gene (PAH) in phenylketonuria and hyperphenylalaninemia patients in the Netherlands. Exons that showed a bandshift were sequenced directly. In this way, we were able to identify 93% of the PAH mutations in a panel of 34 patients. Twenty-one different mutations were found: 4 of these gene aberrations are novel
Original languageEnglish
Pages (from-to)185-190
JournalHuman Heredity
Issue number4
Publication statusPublished - 1996

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