The phenotype/genotype relation and the current status of genetic screening in hypertrophic cardiomyopathy, Marfan syndrome, and the long QT syndrome.
作者信息
Burn J, Camm J, Davies M J, Peltonen L, Schwartz P J, Watkins H
机构信息
Northern Region Genetic Services, Newcastle upon Tyne, UK.
出版信息
Heart. 1997 Aug;78(2):110-6. doi: 10.1136/hrt.78.2.110.
Abstract
摘要
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Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel.K(V)LQT1和minK（IsK）蛋白共同组装形成心脏I(Ks)钾通道。
Nature. 1996 Nov 7;384(6604):80-3. doi: 10.1038/384080a0.
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K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current.K(V)LQT1蛋白和lsK（minK）蛋白相互结合形成心脏钾离子电流I(Ks)。
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Confidential enquiry into counselling for genetic disorders.关于遗传疾病咨询的保密调查。
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Multiple mechanisms in the long-QT syndrome. Current knowledge, gaps, and future directions. The SADS Foundation Task Force on LQTS.长QT综合征的多种机制。当前认知、差距及未来方向。SADS基金会长QT综合征特别工作组
Circulation. 1996 Oct 15;94(8):1996-2012. doi: 10.1161/01.cir.94.8.1996.
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Differential response to Na+ channel blockade, beta-adrenergic stimulation, and rapid pacing in a cellular model mimicking the SCN5A and HERG defects present in the long-QT syndrome.在一个模拟长QT综合征中存在的SCN5A和HERG缺陷的细胞模型中，对钠通道阻滞、β-肾上腺素能刺激和快速起搏的差异反应。
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