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Updated: Jan 17, 2026

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涉及主导神经现象型的阿斯巴拉基尼尔-tRNA合成酶 (NARS1) 变体表现出主导负性特性

Sheila M Peeples1, Keyana Blake2, Brendan L M Sutton1

  • 1Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.

HGG advances
|September 19, 2025
PubMed
概括

阿斯巴拉基尼尔-tRNA合成酶1 (NARS1) 中的致病变体导致主要的神经系统疾病. 大多数NARS1变种表现出主导负效应,与复杂的中枢神经系统和外周神经系统表型相关的更严重的影响.

关键词:
门德尔氏病是门德尔氏病的一种疾病.氨基酸-tRNA合成酶的氨基酸.主导的负面影响.周围神经病变 (Peripheral Neuropathy) 是一种神经病变.

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