Source:http://linkedlifedata.com/resource/pubmed/id/15466643
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
15
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pubmed:dateCreated |
2004-10-12
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pubmed:abstractText |
We studied a large family affected by an autosomal dominant cardiac conduction disorder associated with sinus node dysfunction, arrhythmia, and right and occasionally left ventricular dilatation and dysfunction. Previous linkage analysis mapped the disease phenotype to a 30-cM region on chromosome 3p22-p25 (CMD1E). This region also contains a locus for right ventricular cardiomyopathy (ARVD5) and the cardiac sodium channel gene (SCN5A), mutations that cause isolated progressive cardiac conduction defect (Lenegre syndrome), long-QT syndrome (LQT3), and Brugada syndrome.
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pubmed:grant | |
pubmed:commentsCorrections | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
AIM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1524-4539
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:day |
12
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pubmed:volume |
110
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2163-7
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pubmed:dateRevised |
2011-7-22
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pubmed:meshHeading |
pubmed-meshheading:15466643-Amino Acid Substitution,
pubmed-meshheading:15466643-Arrhythmias, Cardiac,
pubmed-meshheading:15466643-Cardiomyopathy, Dilated,
pubmed-meshheading:15466643-Chromosomes, Human, Pair 3,
pubmed-meshheading:15466643-Exons,
pubmed-meshheading:15466643-Female,
pubmed-meshheading:15466643-Genes, Dominant,
pubmed-meshheading:15466643-Haplotypes,
pubmed-meshheading:15466643-Heterozygote,
pubmed-meshheading:15466643-Humans,
pubmed-meshheading:15466643-Male,
pubmed-meshheading:15466643-Mutation, Missense,
pubmed-meshheading:15466643-Pedigree,
pubmed-meshheading:15466643-Point Mutation,
pubmed-meshheading:15466643-Sodium Channels
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pubmed:year |
2004
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pubmed:articleTitle |
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.
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pubmed:affiliation |
University of Colorado Cardiovascular Institute, Denver, Colo, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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