相关实验视频

Updated: Jun 24, 2025

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion
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Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion

Published on: September 13, 2024

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富含GC的重复扩张:相关的障碍和机制

Christopher Schröder1, Bernhard Horsthemke1, Christel Depienne1

  • 1Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
|June 5, 2024
PubMed
概括

富含GC的重复扩张会导致遗传障碍,通常会被标准测试遗漏. 需要特定的方法来检测这些扩张在调节基因区域,影响基因功能.

关键词:
通过DNA甲基化.富含GC的重复重复.RAN 的翻译它们是RNA焦点.结构 RNA 结构 RNA 结构在RNA中毒性RNA毒性聚合方式 聚合方式 聚合方式基质子的修改 基质子的修改长时间阅读序列排序.单源性疾病 单源性疾病核能包括包括在内.监管地区的监管地区.重复扩张的扩张.串联重复重复的重复

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