Compound Heterozygosity for Loss-of-Function GARS Variants Results in a Multi-System Developmental Syndrome that Includes Severe Growth Retardation

Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes that ligate amino acids onto tRNA molecules. Genes encoding ARSs have been implicated in myriad dominant and recessive disease phenotypes. Glycyl-tRNA synthetase (GARS) is a bi-functional ARS that charges tRNA(Gly) in the cytoplasm...

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Bibliografiska uppgifter
I publikationen:Hum Mutat
Huvudupphovsmän: Oprescu, Stephanie N., Chepa-Lotrea, Xenia, Takase, Ryuichi, Golas, Gretchen, Markello, Thomas C., Adams, David R., Toro, Camilo, Gropman, Andrea L., Hou, Ya-Ming, Malicdan, May Christine V., Gahl, William A., Tifft, Cynthia J., Antonellis, Anthony
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2017
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5599332/
https://ncbi.nlm.nih.gov/pubmed/28675565
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23287
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