[Screening for mutation variants in exons 5, 7, 12 of phenylalanine hydroxylase gene using denaturing gradient gel-electrophoresis].
The assays for analysis of the most frequent mutations of PAH gene in Ukraine (R158Q, R408W, Y414C, P281L, R252W, R261Q) for RKU patients and healthy people using denaturing gradient gel-electrophoresis (DGGE) were developed. The study of spectrum of mutations in exons 5,7,12 PAH gene using DGGE technique and further sequencing of unidentified mutant variants was held.
Solovĭov
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Livshyts'
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D001483:Base Sequence; D004252:DNA Mutational Analysis; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D011110:Polymorphism, Genetic; D014455:Ukraine / Q000453:epidemiology
D010651:Phenylalanine Hydroxylase