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[Genetic analysis of eighteen patients from Gansu Province with Tetrahydrobiopterin deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2024

Zhang Chuan, Tian Xinyuan, Wang Yupei, Ma Panpan, Chen Xue, Zhou Bingbo, Zhang Qinghua, Hao Shengju, Hui Ling, Yin Zhe, Cao Zongfu

Abstract excerpt

OBJECTIVE: To explore the genetic basis of eighteen patients with Tetrahydrobiopterin deficiency (BH4D) from Gansu Province. METHODS: Eighteen patients diagnosed with BH4D at Gansu Provincial Maternal and Child Health Care Hospital from January 2018 to December 2021 were selected as the study subjects. Whole exome sequencing was carried out, and candidate variants were verified by Sanger sequencing. RESULTS: All...

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PMID: 38311548
DOI: 10.3760/cma.j.cn511374-20221028-00727

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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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