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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Detalles Bibliográficos
Autores principales: van Meel, Eline, Wegner, Daniel J, Cliften, Paul, Willing, Marcia C, White, Frances V, Kornfeld, Stuart, Cole, F Sessions
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852179/
https://www.ncbi.nlm.nih.gov/pubmed/24103465
http://dx.doi.org/10.1186/1471-2350-14-106

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