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Updated: Jun 28, 2025

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病例报告:在一个中国患者中发现新型NUS1变异,该患者患有震和智力障碍

Ruolin Li1, Jiayi Yang2, Jinfeng Ma1

  • 1Department of Neurology, Affiliated Hospital of Jining Medical University, Jining Medical University, Jining, China.

Frontiers in genetics
|April 24, 2024
PubMed
概括

核无烯酸酸盐合成酶1 (NUS1) 基因变异与神经系统疾病有关. 这一案例突出显示了一种新的致病性NUS1变异,在患有罕见的先天性糖化乱的患者中引起震,智力障碍和.

关键词:
氨基酸替代的氨基酸替代方法案例报告案例报告是一种.外基因组测序是指外基因组的测序.智力障碍 智力障碍是一种智力障碍.,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,无甲烯酸铁酸盐合成酶的使用年轻的成年人年轻的成年人

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