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Updated: Jul 5, 2025

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在MYOC的位置341的氨酸到氨酸突变会通过引起自性放松调节来损害椎网格功能

Xuejing Yan1,2, Shen Wu1,2, Qian Liu1,2

  • 1Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University; Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing, 100730, China.

Cell death discovery
|January 11, 2024
PubMed
概括

肌林基因 (MYOCS341P) 的突变导致严重的玻璃眼. 这项研究揭示了这种突变导致内分泌网膜应激和眼睛中的细胞死亡,导致视力丧失.

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