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Updated: May 15, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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在KCNB1附近的功能增强剂变体导致家族性ST抑郁综合征

Alex Hørby Christensen1,2, Gang Pan3, Rasmus L Marvig4

  • 1The Unit for Inherited Cardiac Diseases, Department of Cardiology Section 2142, The Heart Centre, Copenhagen University Hospital-Rigshospitalet, Inge Lehmanns Vej 7, DK-2100 Copenhagen OE, Denmark.

European heart journal
|April 10, 2025
PubMed
概括

鉴定了一种罕见的遗传变异,导致家族性ST抑郁综合征 (FSTD),导致与KCNB1基因促进器相互作用的过度活跃的调节部位,导致心律失常.

关键词:
心肌病是一种心肌病.这是一个ECGECGECGECGECG.基因调节 基因调节离子通道 离子通道转录因子是一种转录因子.室腔心律不整 室腔心律不整

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