相关实验视频

Updated: May 22, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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Published on: August 20, 2019

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ATP6V0C的变异与德拉维特样发育性和性脑病变有关

Marlene Rong1, Paula T Marques1, Quratulain Zulfiqar Ali1

  • 1Adult Genetic Epilepsy (AGE) Program, Krembil Brain Institute, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.

Epilepsia
|March 14, 2025
PubMed
概括

德拉维特综合征 (DS) 可能与ATP6V0C的变异有关,而不仅仅是SCN1A. 这一发现扩大了对严重和发育障碍的遗传理解.

关键词:
在 ATP6V0C 中,这就是SCN1A.德拉维特综合征是什么?德拉维特综合征是什么遗传性是一种遗传性.帕金森主义是帕金森主义.整体外基因组测序的测序

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