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rdf:type |
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lifeskim:mentions |
umls-concept:C0015031,
umls-concept:C0015127,
umls-concept:C0026882,
umls-concept:C0030705,
umls-concept:C0035647,
umls-concept:C0039082,
umls-concept:C0205082,
umls-concept:C0205210,
umls-concept:C0205214,
umls-concept:C1314792,
umls-concept:C1416612,
umls-concept:C1514983
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pubmed:issue |
21
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pubmed:dateCreated |
2007-11-20
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pubmed:abstractText |
The impressive clinical heterogeneity of the long-QT syndrome (LQTS) remains partially unexplained. In a South African (SA) founder population, we identified a common LQTS type 1 (LQT1)-causing mutation (KCNQ1-A341V) associated with high clinical severity. We tested whether the arrhythmic risk was caused directly by A341V or by its presence in the specific ethnic setting of the SA families.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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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 |
1524-4539
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pubmed:author |
pubmed-author:AckermanMichael JMJ,
pubmed-author:BrinkPaul APA,
pubmed-author:CrimiGabrieleG,
pubmed-author:CrottiLiaL,
pubmed-author:De FerrariGaetano MGM,
pubmed-author:DenjoyIsabelleI,
pubmed-author:HorieMinoruM,
pubmed-author:InsoliaRobertoR,
pubmed-author:MossArthur JAJ,
pubmed-author:Schulze-BahrEricE,
pubmed-author:SchwartzPeter JPJ,
pubmed-author:ShimizuWataruW,
pubmed-author:SpazzoliniCarlaC,
pubmed-author:SwanHeikkiH,
pubmed-author:WildeArthur A MAA,
pubmed-author:ZaklyazminskayaElena VEV
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pubmed:issnType |
Electronic
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pubmed:day |
20
|
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pubmed:volume |
116
|
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pubmed:owner |
NLM
|
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2366-75
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pubmed:dateRevised |
2008-1-30
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pubmed:meshHeading |
pubmed-meshheading:17984373-Adolescent,
pubmed-meshheading:17984373-Adult,
pubmed-meshheading:17984373-Child,
pubmed-meshheading:17984373-Child, Preschool,
pubmed-meshheading:17984373-Ethnic Groups,
pubmed-meshheading:17984373-Female,
pubmed-meshheading:17984373-Humans,
pubmed-meshheading:17984373-International Cooperation,
pubmed-meshheading:17984373-KCNQ1 Potassium Channel,
pubmed-meshheading:17984373-Long QT Syndrome,
pubmed-meshheading:17984373-Male,
pubmed-meshheading:17984373-Middle Aged,
pubmed-meshheading:17984373-Mutation,
pubmed-meshheading:17984373-Risk Factors,
pubmed-meshheading:17984373-Severity of Illness Index
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pubmed:year |
2007
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pubmed:articleTitle |
The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification.
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pubmed:affiliation |
Section of Cardiology, Department of Lung, Blood and Heart, University of Pavia, Pavia, Italy.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't,
Multicenter Study,
Research Support, N.I.H., Extramural
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