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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2005-7-26
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pubmed:abstractText |
A genetic predisposition for progressive enlargement of thoracic aortic aneurysms leading to type A dissection (TAAD) is inherited in an autosomal-dominant manner in up to 19% of patients, and a number of chromosomal loci have been identified for the condition. Having mapped a TAAD locus to 3p24-25, we sequenced the gene for transforming growth factor-beta receptor type II (TGFBR2) to determine whether mutations in this gene resulted in familial TAAD.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
1524-4539
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pubmed:author |
pubmed-author:ChangJessicaJ,
pubmed-author:EstreraAnthony LAL,
pubmed-author:FaduluVan TranVT,
pubmed-author:GiampietroPhilip FPF,
pubmed-author:HashamSumera NSN,
pubmed-author:LafontAndreaA,
pubmed-author:MilewiczDianna MDM,
pubmed-author:PannuHariyadarshiH,
pubmed-author:RamanC SCS,
pubmed-author:SafiHazim JHJ,
pubmed-author:SheteSanjayS,
pubmed-author:SparksElizabethE,
pubmed-author:WillingMarcia CMC,
pubmed-author:ZaleskiChristinaC
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pubmed:issnType |
Electronic
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pubmed:day |
26
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pubmed:volume |
112
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
513-20
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:16027248-Adult,
pubmed-meshheading:16027248-Aged,
pubmed-meshheading:16027248-Aneurysm, Dissecting,
pubmed-meshheading:16027248-Aortic Aneurysm, Thoracic,
pubmed-meshheading:16027248-Female,
pubmed-meshheading:16027248-Humans,
pubmed-meshheading:16027248-Male,
pubmed-meshheading:16027248-Middle Aged,
pubmed-meshheading:16027248-Mutation,
pubmed-meshheading:16027248-Polymorphism, Single Nucleotide,
pubmed-meshheading:16027248-Protein-Serine-Threonine Kinases,
pubmed-meshheading:16027248-Receptors, Transforming Growth Factor beta,
pubmed-meshheading:16027248-Signal Transduction
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pubmed:year |
2005
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pubmed:articleTitle |
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
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pubmed:affiliation |
Department of Internal Medicine, Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, TX, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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