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rdf:type |
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|
lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
2005-10-28
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pubmed:abstractText |
Long QT syndrome (LQTS) is a cardiovascular disorder characterized by prolonged QTc time, syncope, or sudden death caused by torsades de pointes and ventricular fibrillation. We investigated the clinical and electrophysiologic phenotype of individual mutations and the compound mutations in a family in which different genotypes could be found.
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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 |
Nov
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pubmed:issn |
1547-5271
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:volume |
2
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1238-49
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pubmed:dateRevised |
2009-10-27
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pubmed:meshHeading |
pubmed-meshheading:16253915-Alleles,
pubmed-meshheading:16253915-DNA,
pubmed-meshheading:16253915-Electrophysiology,
pubmed-meshheading:16253915-Ether-A-Go-Go Potassium Channels,
pubmed-meshheading:16253915-Female,
pubmed-meshheading:16253915-Genetic Predisposition to Disease,
pubmed-meshheading:16253915-Genotype,
pubmed-meshheading:16253915-Heart Rate,
pubmed-meshheading:16253915-Humans,
pubmed-meshheading:16253915-KCNQ1 Potassium Channel,
pubmed-meshheading:16253915-Long QT Syndrome,
pubmed-meshheading:16253915-Male,
pubmed-meshheading:16253915-Middle Aged,
pubmed-meshheading:16253915-Mutation, Missense,
pubmed-meshheading:16253915-Pedigree,
pubmed-meshheading:16253915-Phenotype,
pubmed-meshheading:16253915-Polymerase Chain Reaction
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pubmed:year |
2005
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pubmed:articleTitle |
Functional assessment of compound mutations in the KCNQ1 and KCNH2 genes associated with long QT syndrome.
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pubmed:affiliation |
Department of Medical Physiology, The Panum Institute, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark. mgrunnet@mfi.ku.dk
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
|
