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[Identification of ALDH5A1 gene mutations in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2017

Shu Jianbo, Cai Fengying, Fan Wenxuan, Meng Yingtao, Zhang Chunhua, Cai Chunquan, Zhang Yuqin, Lin Shuxiang

Abstract excerpt

OBJECTIVE: To detect potential mutation in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency. METHODS: Genomic DNA was extracted from the peripheral blood samples of the proband, her family members and 100 healthy controls. All exons and flanking intronic regions of the ALDH5A1 gene were amplified by PCR and subjected to direct sequencing. RESULTS: The proband was found to have...

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PMID: 28186584
DOI: 10.3760/cma.j.issn.1003-9406.2017.01.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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