鉴定参与神经发育障碍的基因中的5'未翻译区域变异

Taiju Hayashi1,2, Sachiko Miyamoto1, Yusaku Endo3,4

  • 1Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

PubMed
概括

这项研究确定了神经发育障碍患者的新型5'未翻译区域 (5'-UTR) 变异,通过先进的测序和功能测定揭示了它们的致病机制. 这些发现凸显了5'-UTR变异在遗传疾病中的重要性.

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