Source:http://linkedlifedata.com/resource/pubmed/id/17666061
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
10
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pubmed:dateCreated |
2007-9-19
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pubmed:abstractText |
Previously, autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT [1]) was mapped to chromosome 1q42-43 with identification of pathogenic mutations in RYR2. Autosomal recessive CPVT (2) was mapped to chromosome 1p13-21, leading to the identification of mutations in CASQ2. In this study, we aimed to elucidate clinical phenotypes of a new variant of CPVT (3) in an inbred Arab family and also delineate the chromosomal location of the gene causing CPVT (3).
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1540-8167
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
18
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1060-6
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:17666061-Age Factors,
pubmed-meshheading:17666061-Catecholamines,
pubmed-meshheading:17666061-Child,
pubmed-meshheading:17666061-Chromosome Mapping,
pubmed-meshheading:17666061-Chromosomes, Human, Pair 7,
pubmed-meshheading:17666061-Female,
pubmed-meshheading:17666061-Genetic Linkage,
pubmed-meshheading:17666061-Haplotypes,
pubmed-meshheading:17666061-Humans,
pubmed-meshheading:17666061-Lod Score,
pubmed-meshheading:17666061-Male,
pubmed-meshheading:17666061-Pedigree,
pubmed-meshheading:17666061-Polymorphism, Genetic,
pubmed-meshheading:17666061-Tachycardia, Ventricular
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pubmed:year |
2007
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pubmed:articleTitle |
A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22.
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pubmed:affiliation |
Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. Z.A.Bhuiyan@amc.uva.nl
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pubmed:publicationType |
Journal Article
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