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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...
Sparad:
| I publikationen: | JIMD Rep |
|---|---|
| Huvudupphovsmän: | , , , , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Springer Berlin Heidelberg
2015
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| Ämnen: | |
| Länkar: | 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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