Source:http://linkedlifedata.com/resource/pubmed/id/19073351
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
2010-2-1
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pubmed:abstractText |
Cardiac development is a complex and multifactorial biological process. Heterozygous mutations in the transcription factor NKX2.5 are between the first evidence of a genetic cause for congenital heart defects in human beings. In this study, we evaluated the presence and frequency of mutations in the NKX2.5 gene on 159 unrelated patients with a diverse range of non-syndromic congenital heart defects (conotruncal anomalies, septal defects, left-sided lesions, right-sided lesions, patent ductus arteriosus and Ebstein's anomaly).
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pubmed:commentsCorrections | |
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 |
Feb
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pubmed:issn |
1874-1754
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pubmed:author | |
pubmed:copyrightInfo |
Copyright 2008 Elsevier Ireland Ltd. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:day |
4
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pubmed:volume |
138
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
261-5
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pubmed:dateRevised |
2011-4-20
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pubmed:meshHeading |
pubmed-meshheading:19073351-Amino Acid Sequence,
pubmed-meshheading:19073351-DNA Mutational Analysis,
pubmed-meshheading:19073351-Ductus Arteriosus, Patent,
pubmed-meshheading:19073351-Ebstein Anomaly,
pubmed-meshheading:19073351-Hand Deformities, Congenital,
pubmed-meshheading:19073351-Heart Septal Defects,
pubmed-meshheading:19073351-Homeodomain Proteins,
pubmed-meshheading:19073351-Humans,
pubmed-meshheading:19073351-Point Mutation,
pubmed-meshheading:19073351-Polymerase Chain Reaction,
pubmed-meshheading:19073351-Tetralogy of Fallot,
pubmed-meshheading:19073351-Transcription Factors
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pubmed:year |
2010
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pubmed:articleTitle |
NKX2.5 mutations in patients with non-syndromic congenital heart disease.
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pubmed:affiliation |
Laboratory of Genetics and Molecular Cardiology and Pediatric Cardiology Division, Heart Institute (InCor), Sao Paulo University Medical School, 05403-000 Sao Paulo, Brazil.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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