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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2006-9-5
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pubmed:abstractText |
Four distinct mutations in the human cardiac calsequestrin gene (CASQ2) have been linked to catecholaminergic polymorphic ventricular tachycardia (CPVT). The mechanisms leading to the clinical phenotype are still poorly understood because only 1 CASQ2 mutation has been characterized in vitro.
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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 |
Sep
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pubmed:issn |
1524-4539
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pubmed:author |
pubmed-author:GyorkeSandorS,
pubmed-author:MemmiMirellaM,
pubmed-author:NapolitanoCarloC,
pubmed-author:NoriAlessandraA,
pubmed-author:PrioriSilvia GSG,
pubmed-author:RizziNicolettaN,
pubmed-author:TerentyevDmitryD,
pubmed-author:TurcatoFedericaF,
pubmed-author:ValleGiorgiaG,
pubmed-author:Viatchenko-KarpinskiSergeS,
pubmed-author:VolpePompeoP,
pubmed-author:di BarlettaMarina RaffaeleMR
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pubmed:issnType |
Electronic
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pubmed:day |
5
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pubmed:volume |
114
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1012-9
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pubmed:dateRevised |
2010-4-12
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pubmed:meshHeading |
pubmed-meshheading:16908766-Amino Acid Substitution,
pubmed-meshheading:16908766-Animals,
pubmed-meshheading:16908766-Calsequestrin,
pubmed-meshheading:16908766-Child,
pubmed-meshheading:16908766-Female,
pubmed-meshheading:16908766-Gene Transfer Techniques,
pubmed-meshheading:16908766-Heterozygote Detection,
pubmed-meshheading:16908766-Humans,
pubmed-meshheading:16908766-Male,
pubmed-meshheading:16908766-Muscle Cells,
pubmed-meshheading:16908766-Mutagenesis, Site-Directed,
pubmed-meshheading:16908766-Mutation,
pubmed-meshheading:16908766-Pedigree,
pubmed-meshheading:16908766-Point Mutation,
pubmed-meshheading:16908766-Rats,
pubmed-meshheading:16908766-Syncope,
pubmed-meshheading:16908766-Tachycardia, Ventricular,
pubmed-meshheading:16908766-Transfection
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pubmed:year |
2006
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pubmed:articleTitle |
Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia.
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pubmed:affiliation |
Molecular Cardiology, IRCCS Fondazione Maugeri, University of Pavia, Via Ferrata 8 27100, Pavia, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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