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获得功能的GABRB3变体受体脱敏的相关性与临床严重性

Susan X N Lin1, Philip K Ahring1, Angelo Keramidas2

  • 1Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales 2006, Australia.

Brain : a journal of neurology
|August 30, 2023
PubMed
概括

GABRB3基因中的遗传变异影响GABAA受体脱敏,影响发育性和性脑病变. 降低脱敏度与更严重的疾病相关,而加速衰变显示出更温和的表型.

关键词:
在 SLC12A5A5 中.欧洲投资基金基金 (EIMF) 是一个.在GABAA受体中,GABAA受体是发育性和性脑病变.电力生理学 电力生理学运动障碍 运动障碍

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