Article
[Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Jun 2020
Wu Teng-Hui, Peng Jing, Zhang Ci-Liu, Wu Li-Wen, Yang Li-Fen, Peng Pan, Pang Nan, Yin Fei, He Fang
Abstract excerpt
OBJECTIVE: To study the clinical features of the diseases associated with aminoacyl-tRNA synthetases (ARS) deficiency. METHODS: A retrospective analysis was performed of the clinical and gene mutation data of 10 children who were diagnosed with ARS gene mutations, based on next-generation sequencing from January 2016 to October 2019. RESULTS: The age of onset ranged from 0 to 9 years among the 10 children....
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