Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts
文献类型：期刊论文
| 作者 | Min, Han-Yi1; Qiao, Peng-Peng2,3,4; Asan3,4; Yan, Zhi-Hui5; Jiang, Hui-Feng5; Zhu, Ya-Ping3,4; Du, Hui-Qian3,4; Li, Qin3,4; Wang, Jia-Wei3,4; Zhang, Jie3,4 |
| 刊名 | CHINESE MEDICAL JOURNAL
 |
| 出版日期 | 2016-04-05 |
| 卷号 | 129期号:7页码:860-+ |
| 关键词 | Congenital Cataract GJA8 Next Generation Sequencing Novel In-frame Deletion Targeted Genes Capture |
| 英文摘要 | Background: Congenital cataract (CC) is the leading cause of visual impairment or blindness in children worldwide. Because of highly genetic and clinical heterogeneity, a molecular diagnosis of the lens disease remains a challenge. |
| WOS标题词 | Science & Technology ; Life Sciences & Biomedicine |
| 类目[WOS] | Medicine, General & Internal |
| 研究领域[WOS] | General & Internal Medicine |
| 关键词[WOS] | FRAMEWORK ; GENETICS |
| 收录类别 | SCI |
| 语种 | 英语 |
| WOS记录号 | WOS:000373387000017 |
| 源URL | [http://124.16.173.210/handle/834782/2243]  |
| 专题 | 天津工业生物技术研究所_酵母基因组工程课题组 江会锋_期刊论文 |
| 作者单位 | 1.Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Ophthalmol, Beijing 100730, Peoples R China 2.Univ Chinese Acad Sci, Coll Life Sci, Beijing 100049, Peoples R China 3.BGI Shenzhen, BGI Tianjin, Binhai Genom Inst, Tianjin 300308, Peoples R China 4.BGI Shenzhen, Tianjin Translat Genom Ctr, BGI Tianjin, Tianjin 300308, Peoples R China 5.Chinese Acad Sci, Tianjin Inst Ind Biotechnol, Key Lab Syst Microbial Biotechnol, Tianjin 300308, Peoples R China 6.BGI Shenzhen, Shenzhen 518083, Guangdong, Peoples R China 7.BGI Shenzhen, BGI Guangzhou, Guangzhou Key Lab Canc Trans Omics Res GZ2012, N0348, Guangzhou 510006, Guangdong, Peoples R China |
| 推荐引用方式 GB/T 7714 | Min, Han-Yi,Qiao, Peng-Peng,Asan,et al. Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts[J]. CHINESE MEDICAL JOURNAL,2016,129(7):860-+. |
| APA | Min, Han-Yi.,Qiao, Peng-Peng.,Asan.,Yan, Zhi-Hui.,Jiang, Hui-Feng.,...&Yang, Ling.(2016).Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.CHINESE MEDICAL JOURNAL,129(7),860-+. |
| MLA | Min, Han-Yi,et al."Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts".CHINESE MEDICAL JOURNAL 129.7(2016):860-+. |
入库方式： OAI收割
来源：天津工业生物技术研究所
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