Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome

Abstract

By using next-generation sequencing targeted to MitoExome including the entire mtDNA and exons of 1033 genes encoding the mitochondrial proteome, we described here a novel m.11240C>T mutation in the mitochondrial ND4 gene from a patient with Leigh syndrome. High mutant loads of m.11240C>T were detected in blood, urinary epithelium, oral mucosal epithelium… (More)
DOI: 10.1038/jhg.2016.127

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@article{Xu2017NovelMO, title={Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome}, author={Bing Xu and Xiyuan Li and M. W. Du and Chao Zhou and Hezhi Fang and Jianxin Lyu and Yanling Yang}, journal={Journal of Human Genetics}, year={2017}, volume={62}, pages={291-297} }