Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases

• 主要な著者: Liqing Chen (著者), Xiaoping Luo (著者), Hongling Wang (著者), Yu Tian (著者), Yan Liu (著者)
• フォーマット: 図書
• 出版事項: BMC, 2024-09-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background Duchenne Muscular Dystrophy (DMD) is an X-linked disorder caused by mutations in the DMD gene, with large deletions being the most common type of mutation. Inversions involving the DMD gene are a less frequent cause of the disorder, largely because they often evade detection by s...