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Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.
BMC Med Genet. 2014 Mar 26;15:36. doi: 10.1186/1471-2350-15-36.
BMC Med Genet. 2014.
PMID: 24669931
Free PMC article.
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.
Boczonadi V, Meyer K, Gonczarowska-Jorge H, Griffin H, Roos A, Bartsakoulia M, Bansagi B, Ricci G, Palinkas F, Zahedi RP, Bruni F, Kaspar B, Lochmüller H, Boycott KM, Müller JS, Horvath R.
Boczonadi V, et al.
Hum Mol Genet. 2018 Jun 15;27(12):2187-2204. doi: 10.1093/hmg/ddy127.
Hum Mol Genet. 2018.
PMID: 29648643
Free PMC article.
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