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Article

[Analysis of DPYS gene variants in a child with dihydropyrimidase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2020

Lei Meifang, Li Hong, Zhang Yuqin, Shu Jianbo, Zhang Qianqian, Li Qing

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child with dihydropyrimidase (DHP) deficiency. METHODS: High-throughput sequencing was carried out for the child. Suspected variants were verified by using Sanger sequencing. RESULTS: The proband was found to carry compound heterozygous variants of the DPYS gene, namely c.1468C>T (a missense variant) and c.1339-1363del (a frameshifting variant). CONCLUSION: The...

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Identifiers

PMID: 32472544
DOI: 10.3760/cma.j.issn.1003-9406.2020.06.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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