QRX-421, an Antisense Oligonucleotide (AON) Targeting Mutations in Exon 13 of USH2A, Associated with Retinitis Pigmentosa in Usher Syndrome Type 2, is Effective in Skipping Exon 13 in the USH2A mRNA of Patients Fibroblasts and Patient Derived Optic Cups

Adamson Peter; Chan Heelam; Turunen Janne; Miao Jiayi; de Vrieze Erik; Dona Margo; Albert Silvia; van Wijk Erwin; van Diepen Hester

首页> 外文期刊>Investigative ophthalmology & visual science >QRX-421, an Antisense Oligonucleotide (AON) Targeting Mutations in Exon 13 of USH2A, Associated with Retinitis Pigmentosa in Usher Syndrome Type 2, is Effective in Skipping Exon 13 in the USH2A mRNA of Patients Fibroblasts and Patient Derived Optic Cups

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QRX-421, an Antisense Oligonucleotide (AON) Targeting Mutations in Exon 13 of USH2A, Associated with Retinitis Pigmentosa in Usher Syndrome Type 2, is Effective in Skipping Exon 13 in the USH2A mRNA of Patients Fibroblasts and Patient Derived Optic Cups

机译：QRX-421，USH2A的外显子13中的反义寡核苷酸（AON）靶向突变，与映综合征2型中的视网膜炎，在患者成纤维细胞和患者衍生的视镜杯中的USH2A mRNA中有效

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来源
《Investigative ophthalmology & visual science》 |2017年第8期|共2页
作者
Adamson Peter; Chan Heelam; Turunen Janne; Miao Jiayi; de Vrieze Erik; Dona Margo; Albert Silvia; van Wijk Erwin; van Diepen Hester;
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作者单位

ProQR Therapeut Leiden Netherlands;

ProQR Therapeut Leiden Netherlands;

ProQR Therapeut Leiden Netherlands;

ProQR Therapeut Leiden Netherlands;

Radboudumc Otorhinolaryngol Nijmegen Netherlands;

Radboudumc Otorhinolaryngol Nijmegen Netherlands;

Radboudumc Human Genet Nijmegen Netherlands;

Radboudumc Otorhinolaryngol Nijmegen Netherlands;

ProQR Therapeut Leiden Netherlands;

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原文格式 PDF
正文语种 eng
中图分类眼科学;
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1. QRX-421, an Antisense Oligonucleotide (AON) Targeting Mutations in Exon 13 of USH2A, Associated with Retinitis Pigmentosa in Usher Syndrome Type 2, is Effective in Skipping Exon 13 in the USH2A mRNA of Patients Fibroblasts and Patient Derived Optic Cups [J] . Adamson Peter, Chan Heelam, Turunen Janne, Investigative ophthalmology & visual science . 2017,第8期

机译：QRX-421，USH2A的外显子13中的反义寡核苷酸（AON）靶向突变，与映综合征2型中的视网膜炎，在患者成纤维细胞和患者衍生的视镜杯中的USH2A mRNA中有效
2. QRX-411, an Antisense Oligonucleotide (AON) Directing Splice Correction in USH2A mRNA Caused by the Frequent Deep-Intronic c.7595-2144A G Mutation Associated with Retinitis Pigmentosa in Usher Syndrome Type 2 [J] . van Diepen Hester, Chan Heelam, Turunen Janne, Investigative ophthalmology & visual science . 2017,第8期

机译：QRX-411，反义寡核苷酸（AON）引导USH2A mRNA中的接头矫正，由频繁的深入内肠道C.7595-2144A＆GT引起; G突变与母综合征2型中的视网膜炎
3. QRX-411, an Antisense Oligonucleotide (AON) Directing Splice Correction in USH2A mRNA Caused by the Frequent Deep-Intronic c.7595-2144A G Mutation Associated with Retinitis Pigmentosa in Usher Syndrome Type 2 [J] . van Diepen Hester, Chan Heelam, Turunen Janne, Investigative ophthalmology & visual science . 2017,第8期

机译：QRX-411，反义寡核苷酸（AON）引导USH2A mRNA中的接头矫正，由频繁的深入内肠道C.7595-2144A＆GT引起; G突变与母综合征2型中的视网膜炎
4. Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing [O] . Ling-hui Qu, Xin Jin, Yan-ling Long, 2020

机译：通过靶向下一代测序鉴定中国视网膜色素变性和Usher综合征患者的13种新的USH2A突变
5. Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II [O] . van Wijk, Erwin, Pennings, Ronald J. E., te Brinke, Heleen, 2004

机译：鉴定51个新颖的2a型综合征综合征（USH2A）基因外显子，该基因编码多个保守的功能域，并且在II型2型综合征患者中发生突变

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QRX-421, an Antisense Oligonucleotide (AON) Targeting Mutations in Exon 13 of USH2A, Associated with Retinitis Pigmentosa in Usher Syndrome Type 2, is Effective in Skipping Exon 13 in the USH2A mRNA of Patients Fibroblasts and Patient Derived Optic Cups

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