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The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
Jiang P, Jin X, Peng Y, Wang M, Liu H, Liu X, Zhang Z, Ji Y, Zhang J, Liang M, Zhao F, Sun YH, Zhang M, Zhou X, Chen Y, Mo JQ, Huang T, Qu J, Guan MX. Jiang P, et al. Among authors: zhang m, zhang z, zhang j. Hum Mol Genet. 2016 Feb 1;25(3):584-96. doi: 10.1093/hmg/ddv498. Epub 2015 Dec 8. Hum Mol Genet. 2016. PMID: 26647310
Mitochondrial haplogroup D4j specific variant m.11696G > a(MT-ND4) may increase the penetrance and expressivity of the LHON-associated m.11778G > a mutation in Chinese pedigrees.
Xie S, Zhang J, Sun J, Zhang M, Zhao F, Wei QP, Tong Y, Liu X, Zhou X, Jiang P, Ji Y, Guan MX. Xie S, et al. Among authors: zhang m, zhang j. Mitochondrial DNA A DNA Mapp Seq Anal. 2017 May;28(3):434-441. doi: 10.3109/19401736.2015.1136304. Epub 2016 Jan 22. Mitochondrial DNA A DNA Mapp Seq Anal. 2017. PMID: 27159682
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