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Article

[Correlation between genotypes and biochemical phenotypes of phenylalanine hydroxylase in patients with phenylketonuria].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2012

Shu Jian-bo, Meng Ying-tao, Dang Li-heng, Fu Bo-jing, Song Li

Abstract excerpt

OBJECTIVE: To investigate the correlation between genotypes and biochemical phenotypes of phenylalanine hydroxylase (PAH) in patients with phenylketonuria (PKU). METHODS: Thirteen exons and flanking introns of PAH gene in 102 patients with high blood phenylalanine levels (Phe > 120 umol/L) at initial diagnosis were amplified with polymerase chain reaction and analyzed with single strand conformation polymorphism...

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Identifiers

PMID: 23225039
DOI: 10.3760/cma.j.issn.1003-9406.2012.06.003

Genes

PAH

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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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