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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2010-10-8
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pubmed:abstractText |
The congenital long QT syndrome is a heterogeneous genetic disease associated with delayed cardiac repolarization, prolonged QT intervals, the development of ventricular arrhythmias and sudden death. Type 2 congenital long QT syndrome (LQT2) results from KCNH2 or hERG gene mutations. hERG encodes the K(v)11.1 alpha subunit of the rapidly activating delayed rectifier K(+) current in the heart. Studies of mutant hERG channels indicate that most LQT2 missense mutations generate trafficking-deficient K(v)11.1 channels.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1916-7075
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pubmed:author |
pubmed-author:GeShijunS,
pubmed-author:HuangChenC,
pubmed-author:HuangNaN,
pubmed-author:HuangXiaoyanX,
pubmed-author:HuoJianhuaJ,
pubmed-author:LianJiangfangJ,
pubmed-author:LiuLiyingL,
pubmed-author:XuWeifengW,
pubmed-author:YangXiX,
pubmed-author:ZhangShunS,
pubmed-author:ZhouJianqingJ,
pubmed-author:ZhouJunboJ
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pubmed:issnType |
Electronic
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pubmed:volume |
26
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
417-22
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pubmed:dateRevised |
2011-10-3
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pubmed:meshHeading |
pubmed-meshheading:20931094-Blotting, Western,
pubmed-meshheading:20931094-Cells, Cultured,
pubmed-meshheading:20931094-DNA,
pubmed-meshheading:20931094-Ether-A-Go-Go Potassium Channels,
pubmed-meshheading:20931094-Gene Expression Regulation,
pubmed-meshheading:20931094-Genetic Predisposition to Disease,
pubmed-meshheading:20931094-Humans,
pubmed-meshheading:20931094-Immunohistochemistry,
pubmed-meshheading:20931094-Long QT Syndrome,
pubmed-meshheading:20931094-Mutation, Missense,
pubmed-meshheading:20931094-Patch-Clamp Techniques,
pubmed-meshheading:20931094-Prognosis,
pubmed-meshheading:20931094-Protein Transport
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pubmed:year |
2010
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pubmed:articleTitle |
Novel characteristics of a trafficking-defective G572R-hERG channel linked to hereditary long QT syndrome.
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pubmed:affiliation |
LiHuiLi Hospital, Medical School of Ningbo University, People's Republic of China.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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