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[Analysis of ACADVL gene variant in a Chinese pedigree affected with Very-long-chain acl-CoA dehydrogenase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2024

Ning Haofeng, Chai Yuqiong, Wang Jieqiong, Wang Ya'nan

Abstract excerpt

OBJECTIVE: To carry out genetic testing on a child diagnosed with Very-long-chain acyl-CoA dehydrogenase deficiency (VLADD) in order to provide a basis for genetic counseling and prenatal diagnosis for his family. METHODS: Whole exome sequencing was performed for the proband. Candidate variant sites in the ACADVL gene were verified by Sanger sequencing, and their pathogenicity was predicted based on the...

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Share to Acyl-CoA Dehydrogenase, Long-Chain
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39344618
DOI: 10.3760/cma.j.cn511374-20210525-00441

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