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Transl Pediatr , 3 2 , 01 Apr Review Free to read. Gene , 1 , 07 Aug Cited by 13 articles PMID: Genet Mol Res , 9 1 , 05 Jan Cited by 14 articles PMID: Mol Genet Metab , 98 4 , 08 Aug Free to read. This data has been provided by curated databases and other sources that have cited the article.
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The associated hyperphenylalaninemia phenotype is highly variable, primarily due to great allelic heterogeneity in the PAH locus. The goal of our study was to assess the relationship between individual PAH locus mutations and biochemical and metabolic phenotypes in phenylketonuria PKU and mild hyperphenylalaninemia MHP patients. All 13 exons of the PAH gene of all PKU probands tested were scanned for DNA sequence alterations by denaturing gradient gel electrophoresis DGGE ; mutations were identified by direct fluorescent automated sequencing or by restriction enzyme digestion analysis of the relevant exons.
Genetics of Phenylketonuria: Then and Now. Phenylketonuria: translating research into novel therapies. Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population. Variations in genotype-phenotype correlations in phenylketonuria patients. Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes. The molecular basis of phenylketonuria in Lithuania. The structural basis of phenylketonuria.
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European Network for Human Congenital Imprinting Disorders
Predicting a Clinical/Biochemical Phenotype for PKU/MHP Patients With PAH Gene Mutations