Aminoacyl-tRNA synthetase deficiencies in search of common themes.
Abstract
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 recognition, insight into pathophysiology, and clinical care. Methods: Symptoms were analyzed in all patients with recessive ARS deficiencies reported...
Paper Details
Title
Aminoacyl-tRNA synthetase deficiencies in search of common themes.
Published Date
Feb 1, 2019
Journal
Volume
21
Issue
2
Pages
319 - 330
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