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Updated: Jun 8, 2025

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
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Published on: May 7, 2020

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两种新型的深层内基变异通过结合改变机制引起杜申尼肌肉衰竭

Lei Zhao1, Chaoping Hu1, Shirang Pan2

  • 1Department of Neurology, Children's Hospital of Fudan University, Shanghai, PR China.

Neuromuscular disorders : NMD
|November 6, 2024
PubMed
概括

杜氏肌肉发育不良症 (DMD) 的深层内内变异可以通过激活伪外显子来引起疾病. 这项研究确定了两种新型变异,揭示了DMD进展背后的复杂遗传机制.

关键词:
深层内在变体的内在变体.杜申尼肌肉发育不良症是什么长读序列的测序方式肌肉活检 肌肉活检伪外星人 伪外星人

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