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[Characteristics of gene variants among patients with hyperphenylalaninemia from Quanzhou region of Fujian province].

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

Su Run, Zhu Lin, Lin Yiming, Zhu Jianhua, Zheng Faming, Fu Qingliu

Abstract excerpt

OBJECTIVE: To explore the spectrum of genetic variants among patients with hyperphenylalaninemia (HPA) from Quanzhou area of Fujian province. METHODS: For 63 children affected with HPA, next generation sequencing was used to identify potential variants in PAH, PTS, PCBD1, QDPR, SPR and GCH1 genes. RESULTS: Fifty two variants underlying phenylalanine hydroxylase deficiency (PAHD) and 13 variants underlying...

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Identifiers

PMID: 31703126
DOI: 10.3760/cma.j.issn.1003-9406.2019.11.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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