Article
Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.
Human heredity - 1 Jan 2000
van der Sijs-Bos C J, Diepstraten C M, Juyn J A, Plaisier M, Giltay J C, van Spronsen F J, Smit G P, Berger R, Smeitink J A, Poll-The B T, Ploos van Amstel J K
Abstract excerpt
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...
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