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Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy

机译：靶向的下一代测序鉴定了中国患者的已知EMD突变，其中emery-dreifuss肌营养不良

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Xiafei Dai; Chenqing Zheng; Xuepin Chen; Yibin Tang; Hongmei Zhang; Chao Yan; Huihui Ma; Xiaoping Li;
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1. Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy [J] . Xiafei Dai, Chenqing Zheng, Xuepin Chen, Human genome variation. . 2019,第1期

机译：靶向的下一代测序鉴定了中国患者的已知EMD突变，其中emery-dreifuss肌营养不良
2. Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. [J] . Brown CA, Scharner J, Felice K, Journal of human genetics . 2011,第8期

机译：Emery-Dreifuss肌营养不良患者的新型和复发性EMD突变将外显子2鉴定为突变热点。
3. A novel SYNE2 mutation identified by whole exome sequencing in a Korean family with Emery-Dreifuss muscular dystrophy [J] . Clinica chimica acta: International journal of clinical chemistry and applied molecular biology . 2020,第期

机译：韩国家族中全外膜测序鉴定了一种新的Syne2突变，emery-dreifuss肌营养不良
4. Skeletal and cardiac muscle defects in a murine model of Emery-Dreifuss muscular dystrophy [C] . M. J. Grattan, C. Kondo, J. Thurston, Novartis Foundation symposium on Nuclear organization in development and disease . 2005

机译：Emery-Dreifuss肌营养不良的小鼠模型中的骨骼和心肌缺陷
5. Computational methods to identify genetic mutations from next-generation sequencing data [D] . Lee, Heewook. 2015

机译：从下一代测序数据中识别遗传突变的计算方法
6. Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy [O] . Xiafei Dai, Chenqing Zheng, Xuepin Chen, 2019

机译：有针对性的下一代测序技术在一名患有Emery-Dreifuss肌营养不良的中国患者中鉴定出一个已知的EMD突变
7. Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot [O] . Brown, Charlotte A., Scharner, Juergen, Felice, Kevin, 2011

机译：Emery-Dreifuss肌营养不良患者的新型和复发性EMD突变，确定外显子2为突变热点

Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy

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