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Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.

机译：利用外显子组测序鉴定中国先天性挛缩性腹膜炎家系中一种新的错义FBN2突变。

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Hao Deng; Qian Lu; Hongbo Xu; Xiong Deng; Lamei Yuan; Zhijian Yang; Yi Guo; Qiongfen Lin; Jingjing Xiao; Liping Guan; Zhi Song;
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1. Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly [J] . Xingping Guo, Chunying Song, Yaping Shi, BMC Medical Genetics . 2016,第1期

机译：整个外显子组测序鉴定了一种新的错义FBN2突变，在具有先天性挛缩蛛网膜的四代中国家庭中共同分离
2. Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly [J] . Guoling You, Bailing Zu, Bo Wang, International Journal of Molecular Sciences . 2017,第4期

机译：外显子组测序确定了一个先天性挛缩蛛网膜下腔中国家庭的新型FBN2突变。
3. A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five‐generation Chinese family [J] . Shiyuan Zhou, Fengyu Wang, Yongheng Dou, Clinical Case Reports . 2018,第8期

机译：一个新的FBN2突变与五代中国家庭先天性蛛网膜下腔吻合
4. Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome [C] . Katsiaryna Belaya, Sarah Finlayson, Judith Cossins, International Conference on Myasthenia Gravis and Related Disorders . 2012

机译：鉴定DPAGT1作为突变引起先天性染发素综合征的新基因
5. BRCA1 mutations and polymorphisms in African American women with a family history of breast cancer identified through high throughput sequencing. [D] . Xia, Lucy Yining. 2002

机译：通过高通量测序确定患有乳腺癌家族史的非洲裔美国女性中的BRCA1突变和多态性。
6. Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing [O] . Hao Deng, Qian Lu, Hongbo Xu, -1

机译：使用外显子组序列鉴定先天性挛缩蛛网膜下垂的中国家庭中的新型错义FBN2突变。
7. Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly [O] . Xingping Guo, Chunying Song, Yaping Shi, 2016

机译：整个外显子组测序鉴定出一个新的错义FBN2突变，在具有先天性挛缩蛛网膜的四代中国家庭中共同分离

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.

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