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[Differential diagnosis of a Chinese pedigree with methylmalonic acidemia by next-generation sequencing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2022

Zhao Ganye, Chen Chen, Zhao Xuechao, Liu Lina, Wang Conghui, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a child with suspected propionic acidemia. METHODS: Genomic DNA was extracted from peripheral blood sample of the child and subjected to high-throughput sequencing to screen pathogenic variants of genes associated with methylmalonic acidemia and propionic acidemia, including MUT, MMACHC, MMAA, MMAB, MMADHC, LMBRD1, PCCA, PCCB and SLC22A5. Candidate variants were...

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PMID: 35810423
DOI: 10.3760/cma.j.cn511374-20210518-00425

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