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浏览/检索结果: 共5条，第1-5条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants 期刊论文 FRONTIERS IN GENETICS, 2019, 卷号: 10 作者:  Hu, Fang-Yuan;  Li, Jian-kang;  Gao, Feng-Juan;  Qi, Yu-He;  Xu, Ping 收藏  |  浏览/下载：50/0  |  提交时间：2019/12/05 STGD1  next-generation sequencing  ABCA4 gene  mutation spectrum  variant frequency   Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing 期刊论文 Bioscience Reports, 2018, 卷号: 38, 期号: 2 作者:  Huang, Xiangjun;  Yuan, Lamei;  Xu, Hongbo;  Zheng, Wen;  Cao, Yanna 收藏  |  浏览/下载：11/0  |  提交时间：2019/12/27 ABCA4  exome sequencing  inherited retinal degeneration  mutation  retinitis pigmentosa   Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family 期刊论文 FRONTIERS IN GENETICS, 2017, 卷号: 8 作者:  Qi, Yu-He;  Gao, Feng-Juan;  Hu, Fang-Yuan;  Zhang, Sheng-Hai;  Chen, Jun-Yi 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/05 occult macular dystrophy  gene mutations  molecular diagnosis  ABCA4  RP1L1   Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration 期刊论文 GENE, 2015, 卷号: 567, 期号: [db:dc_citation_issue], 页码: 51-57 作者:  Zhang, Rui;  Wang, Li-Yuan;  Wang, Ya-Feng;  Wu, Chang-Rui;  Lei, Chun-Ling 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/02 Polymorphism  ABCA4  Age-related macular degeneration   Exome Sequencing Analysis Identifies Compound Heterozygous Mutation in ABCA4 in a Chinese Family with Stargardt Disease 期刊论文 PLOS ONE, 2014, 卷号: 9, 期号: 3, 页码: e91962(1-8) Zhou, Yu; Tao, Siyu; Chen, Hui; Huang, Lulin; Zhu, Xiong; Li, Youping; Wang, Zhili; Lin, He; Hao, Fang; Yang, Zhenglin; Wang, Liya; Zhu, Xianjun 收藏  |  浏览/下载：36/0  |  提交时间：2016/01/07