Letter to Editor: Whole-exome Sequencing Identified a Novel Frameshift Mutation of Neurofibromin 1 in a Chinese Family with Neurofibromatosis Type 1

Liu Lv; Qin Jieli; Luo Hong

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Letter to Editor: Whole-exome Sequencing Identified a Novel Frameshift Mutation of Neurofibromin 1 in a Chinese Family with Neurofibromatosis Type 1

机译：致编辑的信：全拓序列鉴定了一种具有神经纤维瘤病1型的中国家庭神经纤维蛋白1的新型突发突变

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来源
《Annals of Clinical and Laboratory Science: Official Journal of the Association of Clinical Scientists》 |2018年第6期|共2页
作者
Liu Lv; Qin Jieli; Luo Hong;
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作者单位

Cent S Univ Xiangya Hosp 2 Diag &

Treatment Ctr Resp Dis Dept Resp Med Changsha 410011 Hunan;

Cent S Univ Xiangya Hosp 2 Diag &

Treatment Ctr Resp Dis Dept Resp Med Changsha 410011 Hunan;

Cent S Univ Xiangya Hosp 2 Diag &

Treatment Ctr Resp Dis Dept Resp Med Changsha 410011 Hunan;

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原文格式 PDF
正文语种 eng
中图分类临床医学;
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专利

1. Letter to Editor: Whole-exome Sequencing Identified a Novel Frameshift Mutation of Neurofibromin 1 in a Chinese Family with Neurofibromatosis Type 1 [J] . Liu Lv, Qin Jieli, Luo Hong Annals of Clinical and Laboratory Science: Official Journal of the Association of Clinical Scientists . 2018,第6期

机译：致编辑的信：全拓序列鉴定了一种具有神经纤维瘤病1型的中国家庭神经纤维蛋白1的新型突发突变
2. Whole-Exome Sequencing Identifies a Novel Homozygous Frameshift Mutation in the MTMR2 Gene as a Causative Mutation in a Patient with Charcot-Marie-Tooth Disease Type 4B1 [J] . Abdalla-Moady Tameemi, Peleg Amir, Sadeh Orit, Molecular Neurobiology . 2018,第4期

机译：全末端测序识别MTMR2基因中的新型纯合架突变，作为具有Charcot-Marie-Tooth疾病4B1型患者的致病性突变
3. Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2 [J] . Bian Xianli, Lin Pengfei, Li Jiangxia, Neuro-degenerative diseases . 2018,第2a3期

机译：全基因组联动分析全面测序鉴定了中国家庭中NEFH的新型架构变体，Charcot-Marie-Tooth 2：Charcot-Marie-Tooth 2的Nefh中的一种新型变种
4. A Bioinformatics Procedure to Identify and Annotate Somatic Mutations in Whole-Exome Sequencing Data [C] . Roberta Spinelli, Rocco Piazza, Alessandra Pirola, International meeting on computational intelligence methods for bioinformatics and biostatistics . 2012

机译：在整个外显子组测序数据中识别和注释体细胞突变的生物信息学程序
5. Analysis of somatic mutations identified by whole-exome sequencing in colorectal cancer metastasis [D] . Zhao, Bixiao 2016

机译：通过全外显子测序鉴定的大肠癌转移中的体细胞突变分析
6. A Novel Frameshift Mutation in Neurofibromin 1 Gene in a Chinese Family with Neurofibromatosis Type 1 [O] . Ying-Ying Dong, Yan-Hong Zhang, Hong-Wen Li, 2017

机译：神经纤维瘤病1型中国家庭中神经纤维蛋白1基因的新型移码突变。
7. A Novel Frameshift Mutation in Neurofibromin 1 Gene in a Chinese Family with Neurofibromatosis Type 1 [O] . Ying-Ying Dong, Yan-Hong Zhang, Hong-Wen Li, 2017

机译：中国神经纤维瘤病1型神经纤维蛋白1基因的一个新的移码突变

Letter to Editor: Whole-exome Sequencing Identified a Novel Frameshift Mutation of Neurofibromin 1 in a Chinese Family with Neurofibromatosis Type 1

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