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Updated: Jul 28, 2025

Author Spotlight: Insights into the Techniques and Findings of Recent Advancements in Epilepsy Research
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蛋白质溶解领域的HCFC1变异与X相关的异常性部分有关:探索潜在机制

Na He1, Bao-Zhu Guan1, Jie Wang1

  • 1Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.

Clinical and translational medicine
|June 2, 2023
PubMed
概括

HCFC1的遗传变异与常见的部分有关,不同的HCF-1域突变导致了不同的表型. 在HCFC1中蛋白质溶解功能障碍是轻度的基础,使其与严重的可巴胺疾病区别开来.

关键词:
在HCFC1变种中,科巴胺代谢障碍 代谢障碍分子亚区域效应的分子效应.部分性是部分性.蛋白质分解功能障碍

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