[1Pa] 神経変性疾患

[1Pa-103] Novel USH2A gene variations identified in Usher syndrome families

○Lin Tai-No¹、Hu Liang-Hsuan¹、Weng Hui-Ying⁵、Liu Yen-Ming ³、Lin Yung-Feng Lin⁴、Huang Jing Rung⁶、Tsai Rong-Kung ²、 Tsai Shih-Feng⁴、Ching Yung-Hao¹ (1. Department of Molecular Biology and Human Genetics, Tzu Chi University、2. Buddhist Tzu Chi Medical Foundation, Hualien Tzu Chi Hospital、3. Department of Life Sciences and Institute of Genome Sciences, National Yang-Ming University、4. Institute of Molecular and Genomic Medicine, National Health Research Institutes、5. Biomedical Industry Ph.D. Program, National Yang Ming Chiao Tung University、6. Department of Computer Science and Information Engineering, National Cheng Kung University)

キーワード：retinal degeneration, USH2A, Whole Exome Sequencing (WES), Usherin