Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.
Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.
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DOI：
10.1016/j.yjmcc.2004.12.006
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发表时间：
2005-02-01
影响因子：
5
通讯作者：
Semsarian, Christopher
中科院分区：
文献类型：
--
作者：
Doolan, Alessandra;Tebo, Molly;Semsarian, Christopher
背景：肥厚型心肌病(HCM)是一种由肌节蛋白突变引起的常染色体显性遗传病。心肌肌钙蛋白I(CTnI)是肌小球的关键开关分子。CTnI的突变已在
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder caused by mutations in sarcomeric proteins. Cardiac troponin I (cTnI) is a key switch molecule in the sarcomere. Mutations in cTnI have been identified in