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Article

[A novel mutation in the ETFDH gene of an infant with multiple acyl-CoA dehydrogenase deficiency].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Jul 2018

Gao Ang, Qiao Long-Wei, Duan Cheng-Ying, Zhao Nan-Nan, Zhang Wei, Zhang Qin

Abstract excerpt

This article reports the results of tandem mass spectrometry and the mutation features of the ETFDH gene for an infant with multiple acyl-CoA dehydrogenase deficiency. The results of tandem mass spectrometry showed that C14 : 1, C8, C6, C10, and C12 increased. Exon sequencing was performed on this infant and his parents and revealed double heterozygous mutations in the ETFDH gene of the infant: c.992A>T and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 30022752
PMCID: PMC7389198

Genes

ETFDH

Variants

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