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Updated: Jun 27, 2025

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对一种罕见的L1CAM基因c.1759G>C变异的功能研究证明了它的致病性

Yuqing Yao1, Liyan Qiu1, Xingyu Wei1

  • 1Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou, China.

Cell biochemistry and function
|May 8, 2024
PubMed
概括

一种罕见的L1CAM基因突变 (c.1759G>C; p.G587R) 与L1综合征有关. 这项研究证实了它的致病性,表明它损害了L1CAM蛋白的功能,细胞粘附和迁移.

关键词:
这就是L1综合征.一个L1CAM.有X结合的头.功能分析是一种功能分析.在产前诊断 产前诊断

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