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Article

Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.

Journal of human genetics - 1 Feb 2015

Kodera Hirofumi, Osaka Hitoshi, Iai Mizue, Aida Noriko, Yamashita Akio, Tsurusaki Yoshinori, Nakashima Mitsuko, Miyake Noriko, Saitsu Hirotomo, Matsumoto Naomichi

Abstract excerpt

Aminoacylation is the process of attaching amino acids to their cognate tRNA, and thus is essential for the translation of mRNA into protein. This direct interaction of tRNA with amino acids is catalyzed by aminoacyl-tRNA synthetases. Using whole-exome sequencing, we identified compound heterozygous mutations [c.169T>C (p.Tyr57His) and c.1485dup (p.Lys496*)] in QARS, which encodes glutaminyl-tRNA synthetase, in...

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PMID: 25471517
DOI: 10.1038/jhg.2014.103

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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