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[CLPB gene mutations analysis in a case of type 3-methylglutaconic aciduria].

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

Dong Rui, Zhang Kaihui, Huang Yan, Jiang Yue, Lyu Yuqiang, Gao Min, Gai Zhongtao, Liu Yi

Abstract excerpt

OBJECTIVE: To validate the diagnosis of an infant with elevated urine 3-methylglutaconic acid (3-MGA) through sequencing of the CLPB gene. METHODS: Genomic DNA of the infant was sequenced by next generation sequencing (NGS), and candidate pathogenic variants were verified by Sanger sequencing and bioinformatics analysis. RESULTS: NGS has revealed that the infant has carried a c.1085G>A (p.Arg362Gln) and a...

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PMID: 32820519
DOI: 10.3760/cma.j.cn511374-20190912-00470

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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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