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[Screening for mutation variants in exons 5, 7, 12 of phenylalanine hydroxylase gene using denaturing gradient gel-electrophoresis].

TSitologiia i genetika - 1 Jan 2000

Solovĭov O O, Livshyts' L A

Abstract excerpt

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.

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19938643

Genes

PAH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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