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Updated: Jul 11, 2025

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基因分析和多式成像识别了新的mtDNA 12148T>C,导致多系统功能障碍与组织特异性异质质瘤

Kinsley Belle, Alexander Kreymerman, Nirmal Vadgama

    medRxiv : the preprint server for health sciences
    |November 14, 2023
    PubMed
    概括

    一种新的线粒体变异,m.12148T>C,在线粒体转移RNA中用于histidine (mt-tRNA-his) 导致多种多系统功能障碍. 早期诊断这种线粒体疾病对于患者的管理和改善结果至关重要.

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