Aminoacyl-tRNA synthetase deficiencies in search of common themes

PURPOSE: Pathogenic variations in genes encoding aminoacyl-tRNA synthetases (ARSs) are increasingly associated with human disease. Clinical features of autosomal recessive ARS deficiencies appear very diverse and without apparent logic. We searched for common clinical patterns to improve disease rec...

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Udgivet i:Genet Med
Main Authors: Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G. J., van Gassen, Koen L. I., Terheggen-Lagro, Suzanne W. J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E. M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H. J., Mulder, Margot F., van Hasselt, Peter M.
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group US 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7091658/
https://ncbi.nlm.nih.gov/pubmed/29875423
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0048-y
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