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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2009-2-3
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pubmed:abstractText |
Genetic screening of long QT syndrome (LQTS) fails to identify disease-causing mutations in about 30% of patients. So far, molecular screening has focused mainly on coding sequence mutations or on substitutions at canonical splice sites.
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pubmed:commentsCorrections |
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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 |
Feb
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pubmed:issn |
1556-3871
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
6
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
212-8
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:19187913-Adult,
pubmed-meshheading:19187913-Death, Sudden, Cardiac,
pubmed-meshheading:19187913-Ether-A-Go-Go Potassium Channels,
pubmed-meshheading:19187913-Female,
pubmed-meshheading:19187913-Genetic Testing,
pubmed-meshheading:19187913-Genotype,
pubmed-meshheading:19187913-Humans,
pubmed-meshheading:19187913-Introns,
pubmed-meshheading:19187913-Lod Score,
pubmed-meshheading:19187913-Long QT Syndrome,
pubmed-meshheading:19187913-Male,
pubmed-meshheading:19187913-Pedigree,
pubmed-meshheading:19187913-Phenotype,
pubmed-meshheading:19187913-Point Mutation,
pubmed-meshheading:19187913-RNA Splice Sites,
pubmed-meshheading:19187913-RNA Splicing,
pubmed-meshheading:19187913-Transcription, Genetic
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pubmed:year |
2009
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pubmed:articleTitle |
A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome.
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pubmed:affiliation |
Department of Cardiology, University of Pavia, and IRCCS Fondazione Policlinico S. Matteo, Pavia, Italy. l.crotti@smatteo.pv.it
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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