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[Detection of the prevalent mutations of 6-pyruvoyl-tetrahydropterin synthase gene by PCR-RFLP analysis in Chinese patients].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2006

Qu Yu-jin, Song Fang, Wang Hong, Jin Yu-wei

Abstract excerpt

OBJECTIVE: To establish a single and rapid method for detecting the prevalent mutations of 6-pyruvoyl-tetrahydropterin synthase (PTPS) gene in Chinese patients with 6-pyruvoyl-tetrahydropterin synthase deficiency (PTPSD). METHODS: PCR-restriction fragment length polymorphism (PCR-RFLP) was used to detect three prevalent PTPS gene mutations in 4 cases of tetrahydrobiopterin deficiency (BH4D) and their parents,...

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PMID: 17160954

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

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