rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1996-2-1
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pubmed:databankReference |
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pubmed:abstractText |
Genetic factors contribute to the risk of sudden death from cardiac arrhythmias. Here, positional cloning methods establish KVLQT1 as the chromosome 11-linked LQT1 gene responsible for the most common inherited cardiac arrhythmia. KVLQT1 is strongly expressed in the heart and encodes a protein with structural features of a voltage-gated potassium channel. KVLQT1 mutations are present in affected members of 16 arrhythmia families, including one intragenic deletion and ten different missense mutations. These data define KVLQT1 as a novel cardiac potassium channel gene and show that mutations in this gene cause susceptibility to ventricular tachyarrhythmias and sudden death.
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pubmed:grant |
|
pubmed:language |
eng
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pubmed:journal |
|
pubmed:citationSubset |
IM
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pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Jan
|
pubmed:issn |
1061-4036
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pubmed:author |
pubmed-author:AtkinsonD LDL,
pubmed-author:BurnT CTC,
pubmed-author:ConnorsT DTD,
pubmed-author:CurranM EME,
pubmed-author:KeatingM TMT,
pubmed-author:LandesG MGM,
pubmed-author:MillhollandJ MJM,
pubmed-author:MossA JAJ,
pubmed-author:SchwartzP JPJ,
pubmed-author:SheaEE,
pubmed-author:SplawskiII,
pubmed-author:TimothyK WKW,
pubmed-author:ToubinJ AJA,
pubmed-author:VanRaayT JTJ,
pubmed-author:VincentG MGM,
pubmed-author:WangQQ,
pubmed-author:de JagerTT
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pubmed:issnType |
Print
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pubmed:volume |
12
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
17-23
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:8528244-Amino Acid Sequence,
pubmed-meshheading:8528244-Base Sequence,
pubmed-meshheading:8528244-Chromosomes, Human, Pair 11,
pubmed-meshheading:8528244-Cloning, Molecular,
pubmed-meshheading:8528244-Female,
pubmed-meshheading:8528244-Genetic Linkage,
pubmed-meshheading:8528244-Humans,
pubmed-meshheading:8528244-Long QT Syndrome,
pubmed-meshheading:8528244-Male,
pubmed-meshheading:8528244-Molecular Sequence Data,
pubmed-meshheading:8528244-Pedigree,
pubmed-meshheading:8528244-Point Mutation,
pubmed-meshheading:8528244-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:8528244-Potassium Channels,
pubmed-meshheading:8528244-Sequence Alignment,
pubmed-meshheading:8528244-Sequence Deletion,
pubmed-meshheading:8528244-Sequence Homology, Amino Acid
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pubmed:year |
1996
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pubmed:articleTitle |
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
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pubmed:affiliation |
Howard Hughes Medical Institute, University of Utah, Salt Lake City 84112, USA.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|