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Updated: Jul 1, 2025

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
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Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Published on: December 10, 2021

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导致过早终结子的突变会歧视并产生HHT的细胞和临床变异性.

Maria E Bernabéu-Herrero1,2, Dilipkumar Patel1,2, Adrianna Bielowka1,2

  • 1National Heart and Lung Institute, Imperial College London, London, United Kingdom.

Blood
|March 8, 2024
PubMed
概括

在遗传性出血端膜病 (HHT) 中,过早终止子 (PTC) 解释出血变异性. 在受压力的细胞中,PTC转录水平上升,这表明HHT的新治疗点.

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