Source:http://linkedlifedata.com/resource/pubmed/id/18564921
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2008-6-20
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pubmed:abstractText |
Primary lymphedema, the accumulation of protein-rich fluid in the interstitial space, is the clinical manifestation of mutations involved in lymphatic development and function. Mutations in three genes, VEGFR3, FOXC2, and SOX18, cause primary lymphedema. However, mutations in these three genes only account for a fraction of primary lymphedema. To identify other genes mutated in primary lymphedema, we resequenced twenty-five biologically plausible candidate genes for lymphedema in a large collection of primary lymphedema families.
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:issn |
1539-6851
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pubmed:author | |
pubmed:issnType |
Print
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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 |
69-76
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:18564921-DNA Mutational Analysis,
pubmed-meshheading:18564921-Exons,
pubmed-meshheading:18564921-Gene Frequency,
pubmed-meshheading:18564921-Genetic Testing,
pubmed-meshheading:18564921-Humans,
pubmed-meshheading:18564921-Introns,
pubmed-meshheading:18564921-Lymphedema,
pubmed-meshheading:18564921-Mutation
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pubmed:year |
2008
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pubmed:articleTitle |
Candidate gene analysis in primary lymphedema.
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pubmed:affiliation |
Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 Desoto Street, Pittsburgh, PA 15261, USA. rferrell@hgen.pitt.edu
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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