Comprehensive analysis of genomic complexity in the 5 ’ end coding region of the DMD gene in patients of exons 1–2 duplications based on long-read sequencing

Dystrophinopathies are the most common X-linked inherited muscle diseases, and the disease-causing gene is DMD. Exonic duplications are a common type of pathogenic variants in the DMD gene, however, 5 ’ end exonic...

Source: BMC Genomics - March 19, 2024 Category: Genetics & Stem Cells Authors: Jiandong Shen, Taoli Ding, Xueping Sun, Ji Yang, Yue Zhang, Jing Wang, Mengdi Ge, Heng Xu, Jiazi Xie, Fei Wang and Feiyang Diao Tags: Research Source Type: research