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Updated: Jun 13, 2025

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

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在ADAMTSL4中发生的突变会导致一种独特形式的自体逆性先天性乳头

Tianhui Chen1, Yan Liu1, Ye Zhao2

  • 1Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, 200031, China; NHC Key Laboratory of Myopia (Fudan University), Key Laboratory of Myopia, Chinese Academy of Medical Sciences, Shanghai, 200031, China; Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai, 200031, China.

Experimental eye research
|September 15, 2024
PubMed
概括

一种新型的ADAMTSL4基因突变通过触发外因跳转和无意中介衰变,导致ADAMTSL4蛋白水平降低,从而导致先天性外周病 (CEL). 这一发现有助于CEL的遗传咨询和产前诊断.

关键词:
亚当斯L4L4亚当斯遗传性子宫外长眼症 (Congenital ectopic lentis) 是一种先天性子宫外长眼症.误解突变是一种错误的突变.这是一个NMD.在PTC中使用PTC.在UPF1中,它是UPF1.

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