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Updated: May 31, 2026

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High Throughput Single-cell and Multiple-cell Micro-encapsulation
Published on: June 15, 2012
在一个单独的基因上,SCN5A多态恢复了布鲁加达综合征突变的贩运
Steven Poelzing1, Cinzia Forleo, Melissa Samodell
1Heart and Vascular Research Center, MetroHealth Campus, Case Western Reserve University, 2500 MetroHealth Dr, Rammelkamp 658, Cleveland, OH 44109-1998, USA.
Circulation
|July 26, 2006
概括
遗传多态可能拯救布鲁加达综合征突变. 发现一种常见的H558R-SCN5A多态性能够在心脏通道中拯救R282H-SCN5A突变,这解释了疾病的不完全透.
科学领域:
- 心血管遗传学 心血管遗传学
- 分子心脏病学分子心脏病学
- 道病变是一种通道病变.
背景情况:
- 布鲁加达综合征是一种遗传性疾病,增加了突然心脏病死亡的风险.
- 它与SCN5A基因的突变有关,该基因编码心脏通道.
- 此前,R282H-SCN5A突变已经在布鲁加达综合征患者中被发现.
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