A diagnostic approach for the unbiased identification of splice switching variants enables tailored antisense oligonucleotide-based correction

Bergsma Atze J.; int Groen Stijn L. M.; van der Ploeg Ans T.; Pijnappel Pim W. W. M.

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A diagnostic approach for the unbiased identification of splice switching variants enables tailored antisense oligonucleotide-based correction

机译：一种用于无偏性识别剪接开关变异体的诊断方法，可实现量身定制的基于反义寡核苷酸的校正

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《Molecular genetics and metabolism》 |2016年第2期|共1页
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Bergsma Atze J.; int Groen Stijn L. M.; van der Ploeg Ans T.; Pijnappel Pim W. W. M.;
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中图分类内分泌腺疾病及代谢病;
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1. A diagnostic approach for the unbiased identification of splice switching variants enables tailored antisense oligonucleotide-based correction [J] . Bergsma Atze J., int Groen Stijn L. M., van der Ploeg Ans T., Molecular genetics and metabolism . 2016,第2期

机译：一种用于无偏性识别剪接开关变异体的诊断方法，可实现量身定制的基于反义寡核苷酸的校正
2. Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia [J] . Garanto Alejandro, Van der Velde-Visser Saskia D., Cremers Frans P. M., Advances in Experimental Medicine and Biology . 2018,第期

机译：基于反义的寡核苷酸的CHM底层血管内血症深入血清突变的剪切校正
3. Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides [J] . Sangermano Riccardo, Garanto Alejandro, Khan Mubeen, Genetics in medicine . 2019,第8期

机译：深入内肠道ABCA4变体解释了Stargardt疾病中的遗传性，并通过反义寡核苷酸校正接头缺陷
4. System identification approach to diagnostics for switching circuits [C] . YUTA YAMAMOTO, ICHIJO HODAKA, EKO SETIAWAN Latest advances in systems science and computational intelligence . 2012

机译：用于开关电路诊断的系统识别方法
5. Modulation of PSMA splice variants using splice switching oligonucleotides in prostate cancer cells. [D] . Williams, Tiffany L. 2006

机译：在前列腺癌细胞中使用剪接切换寡核苷酸调节PSMA剪接变体。
6. Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655AG Mutation in CEP290 [O] . Lonneke Duijkers, L. Ingeborgh van den Born, John Neidhardt, 2018

机译：针对CEP290中c.2991 + 1655A G突变的复合杂合性导致的Leber先天性阿莫司病患者的反义寡核苷酸剪接校正
7. Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation [O] . Radulfus WN Slijkerman, Christel Vaché, Margo Dona, 2016

机译：基于反义寡核苷酸的剪接修复因常见的深内含子突变引起的UsH2a相关性视网膜变性
8. Systematic Identification of Genes Required for Expression of Androgen Receptor Splice Variants. [R] . Mo, Y. 2016

机译：系统鉴定雄激素受体剪接变体表达所需的基因。

A diagnostic approach for the unbiased identification of splice switching variants enables tailored antisense oligonucleotide-based correction

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