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致病突变对活细胞中高序列二胺组合的形成的影响

Per Niklas Hedde1,2,3, Songning Zhu3, Barbara Barylko4

  • 1Beckman Laser Institute and Medical Clinic, University of California, Irvine, California 92697, United States.

Biochemistry
|October 11, 2024
PubMed
概括

动氨酸2 (DNM2) 突变导致查洛-玛丽-牙 (CMT) 和中心核肌病 (CNM). 无论是DNM2突变还是CNM相关突变,都会形成更大的膜结构,但CNM突变会导致更严重的功能获取效应.

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