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Updated: Jul 1, 2025

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
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Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

Published on: October 9, 2014

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替代拼接扩大了NDUFS6相关的线粒体疾病的临床谱

Camila Armirola-Ricaurte1, Noortje Zonnekein1, Georgios Koutsis2

  • 1Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.

Genetics in medicine : official journal of the American College of Medical Genetics
|March 9, 2024
PubMed
概括

这项研究确定了一种较轻的Charcot-Marie-Tooth神经病变 (CMT) 在患有NDUFS6基因变异的患者中,此前与严重的Leigh综合征有关. 替代拼接在这些线粒体疾病中显著影响疾病严重程度.

关键词:
查尔科特-玛丽-牙线粒体疾病 线粒体疾病在NDUFS6中,周围神经病变是一种神经病变.拼接 拼接 拼接 拼接

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