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LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure
Pathogenic variants in mitochondrial aminoacyl-tRNA synthetases result in a broad range of mitochondrial respiratory chain disorders despite their shared role in mitochondrial protein synthesis. LARS2 encodes the mitochondrial leucyl-tRNA synthetase, which attaches leucine to its cognate tRNA. Seque...
Tallennettuna:
| Julkaisussa: | JIMD Rep |
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| Päätekijät: | , , , , , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Springer Berlin Heidelberg
2015
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5059179/ https://ncbi.nlm.nih.gov/pubmed/26537577 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_515 |
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