First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy

• Автори: Zhiying Xie (Автор), Chengyue Sun (Автор), Chang Liu (Автор), Xujun Chu (Автор), Qiang Gang (Автор), Meng Yu (Автор), Yiming Zheng (Автор), Lingchao Meng (Автор), Fan Li (Автор), Dongliang Xia (Автор), Li Wang (Автор), Ying Li (Автор), Jianwen Deng (Автор), He Lv (Автор), Zhaoxia Wang (Автор), Wei Zhang (Автор), Yun Yuan (Автор)
• Формат: Книга
• Опубліковано: Frontiers Media S.A., 2022-06-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: Connect to this object online.

BackgroundThe precise genetic diagnosis of a sarcoglycanopathy or dystrophinopathy is sometimes extremely challenging, as pathogenic non-coding variants and/or complex structural variants do exist in DMD or sarcoglycan genes. This study aimed to determine the genetic diagnosis of three patients from...