首页> 外文期刊>The Journal of investigative dermatology. >Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with gamma-Secretase Spectrum of Autoinflammatory Skin Phenotypes

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Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with gamma-Secretase Spectrum of Autoinflammatory Skin Phenotypes

机译：全基因组连锁分析，然后进行全外显子组测序，可确定尼卡斯汀（NCSTN）为具有自发性皮肤表型的γ-分泌酶谱的多重家族中的致病基因。

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来源
《The Journal of investigative dermatology.》 |2016年第6期|共4页
作者
Zonooz Mehrshid Faraji; Sabbagh-Kermani Farahnaz; Fattahi Zohreh; Fadaee Mahsa; Akbari Mohammad Reza; Amiri Rezvan; Vahidnezhad Hassan; Uitto Jouni; Najmabadi Hossein; Kariminejad Ariana;
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正文语种 eng
中图分类皮肤病学与性病学;
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1. Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with gamma-Secretase Spectrum of Autoinflammatory Skin Phenotypes [J] . Zonooz Mehrshid Faraji, Sabbagh-Kermani Farahnaz, Fattahi Zohreh, The Journal of investigative dermatology. . 2016,第6期

机译：全基因组连锁分析，然后进行全外显子组测序，可确定尼卡斯汀（NCSTN）为具有自发性皮肤表型的γ-分泌酶谱的多重家族中的致病基因。
2. Molecular basis of a linkage peak: exome sequencing and family-based analysis identify a rare genetic variant in the ADIPOQ gene in the IRAS Family Study. [J] . Bowden DW, An SS, Palmer ND, Human Molecular Genetics . 2010,第20期

机译：连锁峰的分子基础：外显子组测序和基于家族的分析在IRAS家族研究中确定了ADIPOQ基因中的罕见遗传变异。
3. Molecular basis of a linkage peak: exome sequencing and family-based analysis identify a rare genetic variant in the ADIPOQ gene in the IRAS Family Study [J] . Donald W. Bowden, S. Sandy An, Nicholette D. Palmer, Human Molecular Genetics . 2010,第20期

机译：连锁峰的分子基础：外显子组测序和基于家族的分析在IRAS家族研究中确定了ADIPOQ基因中的罕见遗传变异
4. SNPViz v2.0: A web-based tool for enhanced haplotype analysis using large scale resequencing datasets and discovery of phenotypes causative gene using allelic variations [C] . Shuai Zeng, Mária Škrabišová, Zhen Lyu, IEEE International Conference on Bioinformatics and Biomedicine . 2020

机译：SNPVIZ v2.0：使用大规模重置数据集和使用等位基因变异的表型引起的成因基因的增强单倍型分析的基于Web的单倍型分析
5. Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract [O] . Xueyuan Jia, Feng Zhang, Jing Bai, 2013

机译：连锁和外显子组测序的组合分析确定了中国先天性白内障家庭的致病突变
6. Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract [O] . Xueyuan Jia, Feng Zhang, Jing Bai, 2013

机译：连锁和外显子组测序的组合分析确定了中国先天性白内障家庭的致病突变

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