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Updated: Jul 21, 2025

Real-Time Quantification of the Effects of IS200/IS605 Family-Associated TnpB on Transposon Activity
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Published on: January 20, 2023

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在1000名瑞典个体中进行了可转移元素插入

Kristine Bilgrav Saether1,2, Daniel Nilsson1,2,3, Håkan Thonberg1,3

  • 1Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

PloS one
|July 28, 2023
PubMed
概括

可移植元素 (TE) 是理解罕见遗传疾病的关键. 鉴定TE插入的特征通过识别患者中以前未知的致病变体来改善罕见疾病的诊断.

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