Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

Glycyl-tRNA synthetase (GARS; OMIM 600287) is one of thirty-seven tRNA-synthetase genes that catalyses the synthesis of glycyl-tRNA, which is required to insert glycine into proteins within the cytosol and mitochondria. To date, eighteen mutations in GARS have been reported in patients with autosoma...

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Detalles Bibliográficos
Autores principales: Nafisinia, Michael, Riley, Lisa G., Gold, Wendy A., Bhattacharya, Kaustuv, Broderick, Carolyn R., Thorburn, David R., Simons, Cas, Christodoulou, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464557/
https://www.ncbi.nlm.nih.gov/pubmed/28594869
http://dx.doi.org/10.1371/journal.pone.0178125

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