[1Pa] Neurodegenerative Disorders

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

○Tai-No Lin¹, Liang-Hsuan Hu¹, Hui-Ying Weng⁵, Yen-Ming Liu³, Yung-Feng Lin Lin⁴, Jing Rung Huang⁶, Rong-Kung Tsai², Shih-Feng Tsai⁴, Yung-Hao Ching¹ (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)

Keywords:retinal degeneration, USH2A, Whole Exome Sequencing (WES), Usherin