在KCNQ1中的剪接突变:在代码子344的一个突变热点,在中产生转录
1Medical Genetics Unit, St George's Hospital Medical School, London, England.
Circulation
|September 8, 1999
概括
KCNQ1基因的突变可能导致长QT综合征,导致心律失常. 影响KCNQ1外子处理的特定突变被确定为这种遗传疾病的热点.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 心脏病学 心脏病学
背景情况:
- 长QT综合征是一种遗传性疾病,会导致心律失常和突然死亡.
- 特定基因的突变,包括KCNQ1,是导致长QT综合征的原因.
- 通道基因KCNQ1位于染色体11p15.5.5上.
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