| Literature DB >> 8807319 |
C J van der Sijs-Bos1, 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.
Abstract
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.Entities:
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Year: 1996 PMID： 8807319 DOI： 10.1159/000154351
Source DB: PubMed Journal: Hum Hered ISSN： 0001-5652 Impact factor: 0.444