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Novel USH2A gene mutants inducing Retinitis Pigmentosa and uses thereof

机译：诱导色素性视网膜炎的新型USH2A基因突变体及其用途

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摘要

The present invention provides 15 USH2A gene mutants usable for diagnosis of retinal pigmentation, a method of detecting a mutant of the USH2A gene, a method of diagnosing retinal pigmentation using a mutant of the USH2A gene, of the USH2A gene It relates to a composition for diagnosing retinal pigmentation comprising an agent for confirming the presence of a mutant and a kit for diagnosing retinal pigmentation comprising the composition.

机译：本发明提供了可用于视网膜色素沉着的诊断的15种USH2A基因突变体，USH2A基因的突变体的检测方法，使用USH2A基因的突变体的视网膜色素沉着的诊断方法，USH2A基因。用于诊断视网膜色素沉着的试剂盒和用于诊断视网膜色素沉着的试剂盒，所述试剂盒用于确认是否存在突变体;所述试剂盒用于诊断视网膜色素沉着。

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公开/公告号KR102168332B1

专利类型
公开/公告日2020-10-21

原文格式PDF
申请/专利权人
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申请/专利号KR1020190090644
发明设计人 이종영;문태식;최정남;이동희;
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申请日2019-07-26
分类号C12Q1/6883;
国家 KR
入库时间 2022-08-21 11:03:31

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2. Luteolin delays photoreceptor degeneration in a mouse model of retinitis pigmentosa [J] . Xiao-Bin Liu, Ying Xu, Feng Liu, 中国神经再生研究（英文版） . 2021,第010期

3. A COMPLETE SCREEN FOR MUTATIONS OF THE RHODOPSIN GENE IN A PANEL OF CHINESE PATIENTS WITH AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA [J] . Xiao-li Zhang, Ming Liu, Xiao-hong Meng, 中国医学科学杂志（英文版） . 2005,第001期

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6. Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa - ScienceDirect [J] . Carla Sanjurjo-Soriano, Nejla Erkilic, Ga?l Manes, Stem cell research . 2018,第3期

7. Visual cortex activation induced by tactile stimulation in late-blind individuals with retinitis pigmentosa [C] . Cunningham Samantha I., Weiland James D., Bao Pinglei, 33rd Annual International Conference of the IEEE Engineering in Medicine and Biology Society . 2011

8. Investigating the pathogenicity of mutations in two ubiquitously expressed housekeeping genes that cause autosomal dominant retinitis pigmentosa. [D] . Spellicy, Catherine Jean. 2009

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