Brugada综合征中的SCN5A基因：突变、变异体、错义突变与无义突变。临床医生该怎么做？ - Suppr

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The SCN5A gene in Brugada syndrome: mutations, variants, missense and nonsense. What's a clinician to do?

作者信息

Skinner Jonathan R, Love Donald R

出版信息

Heart Rhythm. 2010 Jan;7(1):50-1. doi: 10.1016/j.hrthm.2009.10.019. Epub 2009 Oct 17.

DOI:10.1016/j.hrthm.2009.10.019

PMID:20129285

Abstract

摘要

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相似文献

The SCN5A gene in Brugada syndrome: mutations, variants, missense and nonsense. What's a clinician to do?

Heart Rhythm. 2010 Jan;7(1):50-1. doi: 10.1016/j.hrthm.2009.10.019. Epub 2009 Oct 17.

Brugada syndrome: lots of questions, some answers.

Heart Rhythm. 2010 Jan;7(1):47-9. doi: 10.1016/j.hrthm.2009.10.016.

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Heart Rhythm. 2010 Jan;7(1):33-46. doi: 10.1016/j.hrthm.2009.09.069. Epub 2009 Oct 8.

Genetic basis of Brugada syndrome.

Heart Rhythm. 2007 Jun;4(6):756-7. doi: 10.1016/j.hrthm.2007.03.015. Epub 2007 Mar 23.

Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort.

Heart Rhythm. 2007 Jun;4(6):752-5. doi: 10.1016/j.hrthm.2007.02.021. Epub 2007 Mar 2.

[Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome].

Zhonghua Xin Xue Guan Bing Za Zhi. 2007 Dec;35(12):1122-5.

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Heart Rhythm. 2009 Aug;6(8):1176-7. doi: 10.1016/j.hrthm.2009.05.012. Epub 2009 May 14.

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Heart Rhythm. 2007 Jan;4(1):46-53. doi: 10.1016/j.hrthm.2006.09.031. Epub 2006 Sep 28.

Novel SCN5A mutation (Q55X) associated with age-dependent expression of Brugada syndrome presenting as neurally mediated syncope.

Heart Rhythm. 2007 Apr;4(4):516-9. doi: 10.1016/j.hrthm.2006.10.028. Epub 2006 Nov 10.

Just another Brugada syndrome mutation?

Heart Rhythm. 2007 Jan;4(1):54-5. doi: 10.1016/j.hrthm.2006.11.006. Epub 2006 Nov 17.

引用本文的文献

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Biomedicines. 2024 Dec 26;13(1):27. doi: 10.3390/biomedicines13010027.

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Rev Cardiovasc Med. 2022 Sep 19;23(9):324. doi: 10.31083/j.rcm2309324. eCollection 2022 Sep.

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Front Physiol. 2018 Aug 10;9:1088. doi: 10.3389/fphys.2018.01088. eCollection 2018.