title: Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.
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.
authors.affiliation: Clinical Genetics Center Utrecht, The Netherlands.
authors.forename: C J
authors.initials: CJ
authors.lastname: van der Sijs-Bos
authors.forename: C M
authors.initials: CM
authors.lastname: Diepstraten
authors.forename: J A
authors.initials: JA
authors.lastname: Juyn
authors.forename: M
authors.initials: M
authors.lastname: Plaisier
authors.forename: J C
authors.initials: JC
authors.lastname: Giltay
authors.forename: F J
authors.initials: FJ
authors.lastname: van Spronsen
authors.forename: G P
authors.initials: GP
authors.lastname: Smit
authors.forename: R
authors.initials: R
authors.lastname: Berger
authors.forename: J A
authors.initials: JA
authors.lastname: Smeitink
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
authors.forename: J K
authors.initials: JK
authors.lastname: Ploos van Amstel
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000201:enzymology / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D009154:Mutation; D009426:Netherlands; D010649:Phenylalanine / Q000097:blood; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase