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Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype
BACKGROUND: Methionyl-tRNA synthetase (MARS) catalyzes the ligation of methionine to its cognate transfer RNA and therefore plays an essential role in protein biosynthesis. METHODS: We used exome sequencing, aminoacylation assays, homology modeling, and immuno-isolation of transfected MARS to identi...
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Main Authors: | , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
BioMed Central
2013
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3852179/ https://ncbi.nlm.nih.gov/pubmed/24103465 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-106 |
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