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CHIPS for a Mutation Screening of a Large Sized Gene: An example of NF1 Analysis

机译：大型基因突变筛选的碎片：NF1分析的一个例子

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Yo Niida;
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1. Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations. [J] . Osborn MJ, Upadhyaya M Human Genetics . 1999,第4期

机译：评估NF1基因的蛋白质截断测试和突变检测：15个已知和40个未知突变的突变分析。
2. Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1 [J] . Stephen E Hamby, Pablo Reviriego, David N Cooper, Human Genomics . 2013,第1期

机译：在计算机上筛选预测的1型神经纤维瘤病患者中的远程NF1基因调控元件的突变
3. Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only [J] . D.G. Evans, N. Bowers, E. Burkitt-Wright, EBioMedicine . 2016,第4期

机译：满足NIH标准的经典受影响NF1患病个体中NF1基因的全面RNA分析具有很高的灵敏度，并且突变仅在具有色素特征的孤立病例中可以保证阴性测试
4. A Fast and Reliable Amplicon-Based NGS Strategy for Screening of Germ-Line Mutations in BRCA1 and BRCA2 Genes [C] . Dawn Obermoeller, Jiri Nehyba, Radmila Hrdlickova, International Molecular Medicine Tri-Conference. . 2016

机译：基于快速且可靠的扩增子NGS策略，用于筛选BRCA1和BRCA2基因的细菌突变
5. Analysis of NF1 mutation mechanisms. [D] . Loda-Hutchinson, Rebecca L. 2009

机译：NF1突变机制分析。
6. Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only [O] . D.G. Evans, N. Bowers, E. Burkitt-Wright, 2016

机译：满足NIH标准且受经典影响的NF1个体中NF1基因的全面RNA分析具有很高的敏感性并且突变仅在具有色素特征的病例中可以确保阴性测试
7. Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1 [O] . Stephen E Hamby, Pablo Reviriego, David N Cooper, 2013

机译：在计算机上筛选预测的1型神经纤维瘤病患者中的远程NF1基因调控元件的突变

CHIPS for a Mutation Screening of a Large Sized Gene: An example of NF1 Analysis

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