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Updated: Jul 23, 2025

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新型NHP2病理变异影响N端域灵活性,蛋白质稳定性,H/ACA核蛋白 (RNP) 复合体形成和端粒酶活性

Bartosz Maliński1, Jacopo Vertemara2, Elena Faustini1

  • 1Department of Biomedical and Clinical Sciences, Faculty of Medicine and Health Sciences, Linköping University, Linköping 58185, Sweden.

Human molecular genetics
|July 13, 2023
PubMed
概括

两种新的NHP2基因变异因损害端粒酶功能和复杂结合而导致端粒生物学障碍. 这些发现扩大了已知的过早衰老和骨髓衰竭的遗传原因.

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