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Updated: May 20, 2025

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评估致病性DNA变异适用于抗意义寡核酸治疗的共识指南

David Cheerie1, Margaret M Meserve2, Danique Beijer3

  • 1Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.

American journal of human genetics
|March 26, 2025
PubMed
概括

新的指导方针有助于识别适合抗意义寡核酸 (ASO) 治疗的DNA变异,为罕见遗传疾病提供希望. 这些评估现在可以纳入临床实践.

关键词:
反感的寡核化物.达成共识的指导方针 协商一致的指导方针个性化基因疗法 个性化基因疗法个性化医疗是个性化的医疗.罕见的遗传疾病 罕见的遗传疾病

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