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Updated: Jun 7, 2025

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
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在ISCA2中出现了一种新的误解突变,导致异常拼接,并导致多个线粒体功能障碍综合征4

Zuhair Al-Hassnan1,2, Mazhor AlDosary3, Aljouhra AlHargan3

  • 1Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Frontiers in psychiatry
|November 15, 2024
PubMed
概括

一种新的ISCA2基因变异通过破坏拼接导致多重线粒体功能障碍综合征4 (MMDS4). 这项研究确定了这种罕见的神经退行性疾病的新原因,扩大了诊断可能性.

关键词:
在ISCA2创始人变体中,创始人变体是ISCA2.消耗 消耗 消耗 消耗患有白血病的病例包括白血病.我们的mtDNA mtDNA神经回归的神经回归.新的拼接变体 新的拼接变体

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