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A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement

机译：糖基-TRNA合成酶的一种新突变引起了Charcot-Marie-Tooth疾病2D，带有面部和呼吸肌肉参与

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Nobuko Kawakami; Kenichi Komatsu; Hirofumi Yamashita; Kengo Uemura; Nobuyuki Oka; Hiroshi Takashima; Ryosuke Takahashi;
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1. A novel mutation of the glycyl-tRNA synthetase (GARS) gene associated with Charcot-Marie-Tooth type 2D in a Chinese family [J] . Sun Aping, Liu Xiangyi, Zheng Mei, Neurological Research: An Interdisciplinary Quarterly Journal . 2015,第9期

机译：中国家庭Charcot-Marie-Tooth 2D型糖基-tRNA合成酶（GARS）基因的新型突变
2. An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy [J] . Carole D. Nickols, Elizabeth M. C. Fisher, Francesca Achilli, Disease models & mechanisms: DMM . 2009,第7a8期

机译：ENU诱导的小鼠糖基tRNA合成酶（GARS）突变引起周围感觉和运动表型，创建了Charcot-Marie-Tooth型2D周围神经病变模型
3. Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase [J] . Wei Xie, Leslie A. Nangle, Wei Zhang, Proceedings of the National Academy of Sciences of the United States of America . 2007,第24期

机译：人体糖基-tRNA合成酶中的Charcot-Marie-Tooth病致突变的远距离结构效应
4. THERAPEUTIC GENOME EDITING FOR CHARCOT-MARIE-TOOTH DISEASE TYPE 1A [C] . Jae young Lee, Ji-su Lee, Dong Woo Song, Conference on advancing manufacture of cell and gene therapies . 2019

机译：炭疽病1A型的治疗基因组编辑
5. Glycyl-tRNA synthetase mutations cause Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V: A potentially novel disease mechanism for human peripheral neuropathies. [D] . Antonellis, Anthony. 2005

机译：糖基-tRNA合成酶突变导致2D型Charcot-Marie-Tooth病和V型远端脊髓性肌萎缩症：人类周围神经病的潜在新型疾病机制。
6. Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V [O] . Anthony Antonellis, Rachel E. Ellsworth, Nyamkhishig Sambuughin, 2003

机译：2D型Charcot-Marie-Tooth病和V型远端脊髓性肌萎缩症中的糖基tRNA合成酶突变
7. An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy. [O] . Achilli, F, Bros-Facer, V, Williams, HP, 2009

机译：ENU诱导的小鼠糖基tRNA合成酶（GARS）突变引起周围感觉和运动表型，创建了Charcot-Marie-Tooth型2D周围神经病变模型。

A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement

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