[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（2022）
摘要
The new variants discovered in this study have expanded the mutational spectrum of the BCKDHB gene.
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关键词
Maple syrup urine disease,Genetic analysis,Prenatal diagnosis
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