Source:http://linkedlifedata.com/resource/pubmed/id/17149730
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
2007-1-10
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pubmed:abstractText |
PAX3 plays an important role in mammalian embryonic development. Known mutations in PAX3 are etiologically associated with Waardenburg syndrome and syndromic neural tube defects (NTDs). Mutations in the murine homologue, pax3, are responsible for the phenotype of splotch mice, in which nullizygotes are 100% penetrant for NTDs.
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pubmed:grant | |
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 |
Jan
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pubmed:issn |
1542-0752
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pubmed:author | |
pubmed:copyrightInfo |
Copyright (c) 2006 Wiley-Liss, Inc.
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pubmed:issnType |
Print
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pubmed:volume |
79
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
45-9
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pubmed:dateRevised |
2011-6-14
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pubmed:meshHeading |
pubmed-meshheading:17149730-Case-Control Studies,
pubmed-meshheading:17149730-Genotype,
pubmed-meshheading:17149730-Haplotypes,
pubmed-meshheading:17149730-Humans,
pubmed-meshheading:17149730-Infant,
pubmed-meshheading:17149730-Models, Genetic,
pubmed-meshheading:17149730-Paired Box Transcription Factors,
pubmed-meshheading:17149730-Polymorphism, Single Nucleotide,
pubmed-meshheading:17149730-Risk Factors,
pubmed-meshheading:17149730-Sequence Analysis, DNA,
pubmed-meshheading:17149730-Spinal Dysraphism
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pubmed:year |
2007
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pubmed:articleTitle |
Screening for novel PAX3 polymorphisms and risks of spina bifida.
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pubmed:affiliation |
Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A&M University System Health Science Center, Houston, Texas 77030, and Children's Hospital Oakland Research Institute, CA, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, N.I.H., Extramural
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