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Article

[Analysis of GFM1 gene mutations in a family with combined oxidative phosphorylation deficiency 1].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 25 Oct 2020

Shen Yaping, Yan Kai, Dong Minyue, Yang Rulai, Huang Xinwen

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic characteristics of a family with combined oxidative phosphorylation deficiency 1 (COXPD-1). METHODS: The whole exome sequencing was performed in parents of the proband; and the genetic defects were verified by Sanger sequencing technology in the dried blood spot of the proband, the amniotic fluid sample of the little brother of proband, and the peripheral...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33210482
DOI: 10.3785/j.issn.1008-9292.2020.10.04
PMCID: PMC8800753

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