相关实验视频

Updated: Jul 14, 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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脊椎肌肉缩I型与新型SMN1拼接变体相关,该变体破坏了功能转录的表达

Christina Votsi1, Pantelitsa Koutsou1, Antonis Ververis1

  • 1Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Frontiers in neurology
|October 6, 2023
PubMed
概括

这项研究确定了一种新的SMN1基因变异,导致婴儿脊髓肌缩 (SMA). 这一发现扩大了已知的SMA引起的遗传改变的范围.

关键词:
塞浦路斯的塞浦路斯人人口.这种新型变种是新奇的.脊柱肌肉缩 脊柱肌肉缩 脊柱肌肉缩拼接失调调节的错误调节转录分析 转录分析

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Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides05:16

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