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[Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency].

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae - 1 Apr 2008

Qu Yu-Jin, Song Fang, Jin Yu-Wei, Wang Hong

Abstract excerpt

OBJECTIVE: To investigate the distribution character of the mutations of 6-pyruvoyl tetrahydropterin synthase (PTPS) gene and to provide effective basis for gene diagnosis of tetrahydrobiopterin deficiency (BH4D) in children with hyperphenylalaninemia. METHODS: Direct sequencing was performed for screening the PTPS gene mutations in 5 patients with clinically suspected BH4D and their parents. The nature of the...

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PMID: 18505119

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

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