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Updated: Sep 19, 2025

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
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Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

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单个反意义的寡核酸可纠正热点前子中的多种分离突变

Chaorui Duan1,2,3, Stephen Rong4,5, Luke Buerer1,2,3

  • 1Brown Ribonucleic Acid Center, Providence, RI 02903.

Proceedings of the National Academy of Sciences of the United States of America
|June 16, 2025
PubMed
概括

影响RNA拼接的遗传突变与疾病有关. 这项研究确定了关键基因中的1,733个拼接破坏突变,发现它们聚集在特定的"热点外基因中",这表明单个寡核酸治疗的潜力.

关键词:
反感的寡核化物.热点的前期存在.拼接突变的突变

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