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[Genetic analysis of two Chinese families with maple syrup urine disease].

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

Zhang Chuan, Feng Xuan, Yao Liguo, Hao Shengju, Hui Ling, Chen Xue, Zheng Lei, Wang Xing, Zhang Qinghua, Cao Zongfu

Abstract excerpt

OBJECTIVE: To carry out genetic analysis for 3 children from two Chinese families affected with maple syrup urine disease (MSUD). METHODS: Target capture - next-generation sequencing and Sanger sequencing were used to detect pathogenic variants associated with MSUD. RESULTS: The proband from family 1 was found to harbor homozygous c.560G>T (p.Gly187Val) variant of the BCKDHB gene (NM_000056), whilst the two...

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PMID: 35810422
DOI: 10.3760/cma.j.cn511374-20210225-00162

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BCKDHB

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