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To arrive at the top five similar articles we use a word-weighted algorithm to compare words from the Title and Abstract of each citation. Genetika , 44 10 , 01 Oct Cited by: 0 articles PMID: Hum Mutat , 21 4 , 01 Apr Cited by 15 articles PMID: Erlandsen H , Stevens RC. Mol Genet Metab , 68 2 , 01 Oct Cited by 75 articles PMID: Scriver CR. Hum Mutat , 28 9 , 01 Sep Cited by articles PMID: Coronavirus: Find the latest articles and preprints.
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.
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Predicting a Clinical/Biochemical Phenotype for PKU/MHP Patients With PAH Gene Mutations
European Network for Human Congenital Imprinting Disorders