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[Analysis of ACAT1 gene variants in a patient with β-ketothiolase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2021

Sun Chuntao, Zhang Qigang, Kong Lingli, Wang Yumei, Zhang Li

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a child suspected for β-ketothiolase deficiency by neonatal screening. METHODS: All coding exons and flanking sequences of the ACAT1 gene were subjected to targeted capture and high-throughput sequencing. Suspected variants were verified by Sanger sequencing and bioinformatic analysis. RESULTS: The child was found to harbor compound heterozygous variants of the ACAT1...

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Share to Acetyl-CoA C-Acetyltransferase
Share to Amino Acid Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

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Identifiers

PMID: 33565073
DOI: 10.3760/cma.j.cn511374-20200121-00045

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