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Article

[Clinical features and genetic variants of a case with carnitine palmitoyltransferase 1A deficiency].

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

Hong Dongyang, Wang Yanyun, Sun Yun, Ma Dingyuan, Cheng Wei, Jiang Tao

Abstract excerpt

OBJECTIVE: To identify the possible pathogenesis of a neonate with carnitine palmitoyltransferase 1A (CPT1A) deficiency by analyzing gene variants. METHODS: Potential variants were detected with an Ion Torrent semiconductor sequencer using a gene panel for inherited diseases, and gene variants were verified by Sanger sequencing. RESULTS: Genetic testing indicated that the neonate has carried c.1895T>A(p.Leu632X)...

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Share to Carnitine O-Palmitoyltransferase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35810433
DOI: 10.3760/cma.j.cn511374-20210319-00251

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