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Updated: Jul 1, 2025

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
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Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

Published on: March 16, 2022

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了解和拯救由频繁的ABCA4变体引起的拼接缺陷c.4253+43G>一个潜在的Stargardt疾病

Nuria Suárez-Herrera1, Alejandro Garanto1,2, Rob W J Collin1

  • 1Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

Nucleic acid therapeutics
|March 11, 2024
PubMed
概括

在ABCA4的致病变体导致Stargardt病 (STGD1). 这项研究描述了c.4253+43G>A拼接缺陷,并探索了反感性寡核酸治疗,在患者细胞中取得了有限的成功.

关键词:
在ABCA4A4A4A4A4A4A4A4A4在RNA疗法中使用RNA疗法.斯塔格尔特病是斯塔格尔特病的一种疾病.这是一种反意义的寡核酸.突出跳过的突出跳过马克西吉恩·马克西吉恩 (Maxigene Maxigene) 是一个名字.

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