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使用iPSC衍生的视网膜有机体和回顾性临床数据,证明ABCA4中常见的非外基突变的致病性

Erin R Burnight1,2, Beau J Fenner1,2, Ian C Han1,2

  • 1Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.

Human molecular genetics
|November 6, 2023
PubMed
概括

该ABCA4基因变异IVS30+1321 A>G通过破坏蛋白质的产生引起视网膜疾病. 这一发现有助于理解孟德尔的视网膜疾病和ABCA4基因突变.

关键词:
在ABCA4A4A4A4A4A4A4A4A4通过RNA拼接进行RNA拼接.斯塔格尔特病是斯塔格尔特病的一种疾病.基因检测 基因检测是指基因检测.视网膜有机物 视网膜有机物

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