A novel CACNA1C mutation identified in a patient with atypical Timothy syndrome exerts both loss- and gain-of-function effects on Cav1.2

被引：0
|
作者：
Ozawa, J. [1 ]
Ohno, S. [1 ]
Toyoda, F. [2 ]
Fukuyama, M. [1 ]
Harita, T. [3 ]
Makiyama, T. [3 ]
Saitoh, H. [4 ]
Suzuki, H. [5 ]
Saitoh, A. [5 ]
Matsuura, H. [2 ]
Horie, M. [1 ]
机构：
[1] Shiga Univ Med Sci, Dept Cardiovasc & Resp Med, Shiga, Japan
[2] Shiga Univ Med Sci, Dept Physiol, Shiga, Japan
[3] Kyoto Univ, Grad Sch Med, Dept Cardiovasc Med, Kyoto, Japan
[4] Seirei Hamamatsu Gen Hosp, Dept Cardiovasc Med, Shizuoka, Japan
[5] Niigata Univ, Dept Pediat, Grad Sch Med & Dent Sci, Niigata, Japan
来源：
EUROPEAN HEART JOURNAL | 2016年 / 37卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
P3466
引用
收藏
页码：681 / 681
页数：1
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