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Updated: Jul 19, 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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星病相关的内框架ABCA4外子17跳转导致显著的ABCA4功能

Melita Kaltak1,2, Rocio Blanco-Garavito3, Laurie L Molday4

  • 1Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

Journal of translational medicine
|August 16, 2023
PubMed
概括

反感性寡核酸 (AONs) 可以诱导ABCA4基因中的外跳转,可能治疗斯塔格特病 (STGD1). 跳过ABCA4的第17个外显子保留了部分蛋白质活性,为STGD1患者提供了治疗策略.

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