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Targeted Next-Generation Sequencing Identifies ABCA4 Mutations in Chinese Families with Childhood-Onset and Adult-Onset Stargardt Disease

机译：有针对性的下一代测序鉴定了具有儿童发病和成人发作的疾病的中国家庭中的ABCA4突变

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Ling-hui Qu; Xin Jin; Chao Zeng; Nian-gou Zhou; Yan-hong Liu; Ye Lin;
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1. Exome sequencing analysis identifies novel homozygous mutation in ABCA4 in a Chinese family with Stargardt disease [J] . Xiao-Dan Hao, Ying Liu, Bao-Wei Li, 国际眼科杂志：英文版 . 2020,第004期

机译：外显子组测序分析确定了Stargardt病中国家庭ABCA4的新纯合突变
2. Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family [J] . Longhao Wang, Lin Zhao, Hu Peng, Journal of Neural Transplantation and Plasticity: Neural Plasticity . 2020,第Supplementa1期

机译：鉴定的下一代测序鉴定了MyO15a中的化合物杂合酶突变作为中国汉族非合成耳聋的可能原因
3. Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing [J] . Shan Li, Jianfei Zhang, Yixuan Cao, BMC Medical Genetics . 2019,第1期

机译：中国家庭中鉴定的新型突变，具有靶向下一代测序的常染色体显性先天性白内障
4. Microfluidic PCR Amplification for Next-Generation Sequencing of GAA to Detect Mutations that Cause Pompe Disease [C] . Patricia W. Mueller, Gregory R. Kerr, Justine I. Lyons, International Sample Prep Technologies Conference . 2015

机译：Gaa的下一代测序的微流体PCR扩增以检测引起群众疾病的突变
5. Computational methods to identify genetic mutations from next-generation sequencing data [D] . Lee, Heewook. 2015

机译：从下一代测序数据中识别遗传突变的计算方法
6. Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease [O] . Ling-hui Qu, Xin Jin, Chao Zeng, 2021

机译：有针对性的下一代测序鉴定了具有儿童发病和成人发作的疾病的中国家庭中的ABCA4突变
7. Exome Sequencing Analysis Identifies Compound Heterozygous Mutation in ABCA4 in a Chinese Family with Stargardt Disease [O] . Zhou, Yu, Tao, Siyu, Chen, Hui, 2014

机译：外显子组测序分析确定了Stargardt病中国家庭ABCA4的复合杂合突变

Targeted Next-Generation Sequencing Identifies ABCA4 Mutations in Chinese Families with Childhood-Onset and Adult-Onset Stargardt Disease

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