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部分丧失FITM2功能会导致遗传性性

Ainara Salazar-Villacorta, Laura M Bond, Leehyeon Kim

    medRxiv : the preprint server for health sciences
    |February 20, 2025
    PubMed
    概括

    对于ER恒温至关重要的FITM2基因的突变与遗传性性 (HSP) 有关. 一种特定的G100R突变降低了FIT2酶活性,揭示了FITM2相关的神经疾病的新谱.

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