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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2009-10-21
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pubmed:abstractText |
KCNJ2 encodes Kir2.1, a pore-forming subunit of the cardiac inward rectifier current, I(K1). KCNJ2 mutations are associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia. The aim of this study was to characterize the biophysical and cellular phenotype of a KCNJ2 missense mutation, V227F, found in a patient with catecholaminergic polymorphic ventricular tachycardia.
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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 |
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 |
1941-3084
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pubmed:author |
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pubmed:issnType |
Electronic
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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 |
540-7
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pubmed:dateRevised |
2010-12-3
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pubmed:meshHeading |
pubmed-meshheading:19843922-Adult,
pubmed-meshheading:19843922-Analysis of Variance,
pubmed-meshheading:19843922-Andersen Syndrome,
pubmed-meshheading:19843922-Animals,
pubmed-meshheading:19843922-COS Cells,
pubmed-meshheading:19843922-Cells, Cultured,
pubmed-meshheading:19843922-Cercopithecus aethiops,
pubmed-meshheading:19843922-Cyclic AMP-Dependent Protein Kinases,
pubmed-meshheading:19843922-DNA Mutational Analysis,
pubmed-meshheading:19843922-Electrocardiography,
pubmed-meshheading:19843922-Female,
pubmed-meshheading:19843922-Genetic Predisposition to Disease,
pubmed-meshheading:19843922-Humans,
pubmed-meshheading:19843922-Mutation, Missense,
pubmed-meshheading:19843922-Phenotype,
pubmed-meshheading:19843922-Potassium Channels, Inwardly Rectifying,
pubmed-meshheading:19843922-Tachycardia, Ventricular,
pubmed-meshheading:19843922-Transfection
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pubmed:year |
2009
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pubmed:articleTitle |
Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia.
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pubmed:affiliation |
Department of Medicine, University of Wisconsin, Madison, Wisconsin 53792, USA.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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