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Updated: Sep 17, 2025

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
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Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides

Published on: May 7, 2020

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伪埃克松通过深层内基变体和表型变异激活在一个中国家族的dystrophinopathy

Xingyu Xia1,2,3, Kexin Jiao1,2,3, Chaoping Hu4

  • 1Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.

Journal of human genetics
|June 29, 2025
PubMed
概括

双基因 (DMD) 中的一种深层内基变异通过激活mRNA中的伪子 (PE) 来引起杜氏肌肉发育不良 (DMD). 这种拼接缺陷导致几乎完全丧失了双蛋白.

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