在ARSB基因中复杂的结构和拼接改变变异的功能分析 面向针对VI型粘多糖症患者的个性化反感性疗法

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Updated: Sep 15, 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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Igor Bychkov1, Alexandra Filatova2, Galina Baydakova1

  • 1Department of Molecular Mechanisms of Inherited Metabolic Disorders, Research Centre for Medical Genetics, Moscow, Russia.

Human mutation
|July 18, 2025
PubMed
概括

对VI型粘多糖症 (MPS VI) 的遗传分析可能具有挑战性. 这项研究确定了标准测序遗漏的复杂变异,并提出了反意义疗法,以恢复ARSB基因功能.

关键词:
在DNA重组的过程中,DNA重组.马罗托拉米综合征 马罗托拉米综合征反感疗法是一种反感疗法.这是下一代测序.过早的多亚脱化过早的多亚脱化.这是一个假的exonon.拼接纠正纠正拼接纠正

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