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A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature

YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase that catalyzes the covalent binding of tyrosine to its cognate mt-tRNA. Mutations in YARS2 have been identified in patients with myopathy, lactic acidosis, and sideroblastic anemia type 2 (MLASA2). We report here on two siblings with a novel mu...

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Detaylı Bibliyografya
Yayımlandı:JIMD Rep
Asıl Yazarlar: Ardissone, Anna, Lamantea, Eleonora, Quartararo, Jade, Dallabona, Cristina, Carrara, Franco, Moroni, Isabella, Donnini, Claudia, Garavaglia, Barbara, Zeviani, Massimo, Uziel, Graziella
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Berlin Heidelberg 2015
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4375118/
https://ncbi.nlm.nih.gov/pubmed/25638461
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_397
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