在一个患有家族性扩张型心肌病（DCM）的家庭中，通过全外显子组测序结合DCM相关基因筛选鉴定出LMNA（c.646C>T）变异。 - Suppr

Identification of a LMNA (c.646C>T) variant by whole-exome sequencing in combination with a dilated cardiomyopathy (DCM) related gene filter in a family with familiar DCM.

作者信息

Chen Liang, Zhou Zhong-Yin, Lu Hui-He, Xie Ye, Li Gang, Huang Jian-Fei, Zhao Dong-Sheng

机构信息

Department of Cardiology, The Second Affiliated Hospital of Nantong University, Nantong, Jiangsu 226001, China.

Department of Cardiology, The First Affiliated hospital of Hubei University of Technology, Xianning, Hubei 437600, China.

出版信息

J Biomed Res. 2018 Jul 23;32(4):314-316. doi: 10.7555/JBR.32.20180003.

DOI:10.7555/JBR.32.20180003

PMID:30007954

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6117609/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e30/6117609/b212c0bd4b18/jbr-32-04-314-fig1.jpg

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Identification of a LMNA (c.646C>T) variant by whole-exome sequencing in combination with a dilated cardiomyopathy (DCM) related gene filter in a family with familiar DCM.在一个患有家族性扩张型心肌病（DCM）的家庭中，通过全外显子组测序结合DCM相关基因筛选鉴定出LMNA（c.646C>T）变异。

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J Zhejiang Univ Sci B. 2014 Sep;15(9):830-7. doi: 10.1631/jzus.B1400062.

A1180V of cardiac sodium channel gene (SCN5A): is it a risk factor for dilated cardiomyopathy or just a common variant in Han Chinese?心脏钠离子通道基因（SCN5A）的 A1180V 突变：是扩张型心肌病的危险因素，还是汉族人群中的常见变异？

Dis Markers. 2013;35(5):531-5. doi: 10.1155/2013/659528. Epub 2013 Oct 20.

Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. lamin A/C 基因突变携带者主要心脏事件和死亡率的性别差异。

Eur J Heart Fail. 2013 Apr;15(4):376-84. doi: 10.1093/eurjhf/hfs191. Epub 2012 Nov 25.

Cardiomyopathies: classification, diagnosis, and treatment.心肌病：分类、诊断和治疗。

Heart Fail Clin. 2012 Jan;8(1):53-78. doi: 10.1016/j.hfc.2011.08.014.

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Identification of a LMNA (c.646C>T) variant by whole-exome sequencing in combination with a dilated cardiomyopathy (DCM) related gene filter in a family with familiar DCM.

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