Article
[Identification and functional analysis of combined oxidative phosphorylation deficiency 28 gene mutation].
Zhonghua nei ke za zhi - 1 Dec 2022
Shi P, Cheng Y P, Li Z Y, Wang S P, Shi Y Z, Ji Y M, Fang L, Zhao J J, Gao L, Xu C
Abstract excerpt
Objective: To report a case of combined oxidative phosphorylation deficiency 28 (COXPD28) in China, identified the pathogenic mutation and explored the pathogenic mechanism preliminarily. Methods: The clinical characteristics of a patient with COXPD28 were retrospectively analyzed and the pathogenic mutations were identified by mitochondrial gene sequencing and whole exome sequencing. The wild-type and mutant...
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