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[Study of the phenylalanine hydroxylase gene variants in patients with phenylketonuria from Jiangxi province].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2019

Lu Qing, Liu Yanqiu, Yang Bicheng, Xie Kang, Zou Yongyi, Lu Wan, Wang Feng

Abstract excerpt

OBJECTIVE: To delineate the variants spectrum of phenytalanine hydroxylase (PAH) gene among 78 unrelated patients with phenylketonuria (PKU) from Jiangxi province. METHODS: The 13 exons and flanking intronic regions of the PAH gene were subjected to PCR amplification and sequencing. RESULTS: A total of 143 variants were detected among the 156 alleles, which included 54 types of variants, which yielded a detection...

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PMID: 31703125
DOI: 10.3760/cma.j.issn.1003-9406.2019.11.001

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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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