Two novel deep intronic variants cause Duchenne muscular dystrophy by splice-altering mechanism

作者：Lei Zhao, Chaoping Hu, Shirang Pan, Depeng Wang, Yi Wang, Xihua Li · 发表于：Neuromuscular Disorders · 年份：2024 · DOI：10.1016/j.nmd.2024.104470 · 被引用次数：6 · 研究领域：Muscle Physiology and Disorders、Tissue Engineering and Regenerative Medicine、Genetic Neurodegenerative Diseases