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Updated: Jan 18, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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TFIIH-p52ΔC定义了第九个异皮肤色素补充组XP-J,并恢复了TFIIH的稳定性到p8缺陷的三基变

Yuka Nakazawa1,2, Lin Ye1,2, Yasuyoshi Oka2

  • 1Department of Molecular Genetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan.

The Journal of clinical investigation
|September 9, 2025
PubMed
概括

人工反意义寡核酸 (ASO) 为罕见疾病提供希望,例如三二 (TTD). 这项研究提出了一种新的N-of-1 ASO策略,以稳定TTD患者的TFIIH,从而有可能改善治疗结果.

关键词:
细胞生物学 细胞生物学修复DNA的修复DNA的修复皮肤病学 皮肤病学遗传性疾病是一种遗传性疾病.遗传学 是一个遗传学.分子生物学分子生物学

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