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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2007-12-12
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pubmed:abstractText |
Diagnostic and predictive testing for Huntington disease requires an accurate measurement of CAG repeats in the HD (IT15) gene. However, precise repeat sizing can be technically challenging, and is complicated by the lack of quality control and reference materials (RM). The aim of this study was to characterize genomic DNA from 14 Huntington cell lines available from the National Institute of General Medical Sciences Human Genetic Cell Repository at the Coriell Cell Repositories for use as reference materials for CAG repeat sizing.
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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 |
Oct
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pubmed:issn |
1530-0366
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pubmed:author |
pubmed-author:BeckJeanneJ,
pubmed-author:Berry-KravisElizabethE,
pubmed-author:BullerArleneA,
pubmed-author:CaseyBrettB,
pubmed-author:FeldmanGerald LGL,
pubmed-author:HandsfieldJamesJ,
pubmed-author:JakupciakJohn PJP,
pubmed-author:JohnsonMonique AMA,
pubmed-author:KalmanLisaL,
pubmed-author:MaraghSamanthaS,
pubmed-author:MattesonKarlaK,
pubmed-author:MuralidharanKasinathanK,
pubmed-author:RichardsC SueCS,
pubmed-author:RichieKristy LKL,
pubmed-author:RohlfsElizabeth MEM,
pubmed-author:SchaeferFrederickF,
pubmed-author:SellersTinaT,
pubmed-author:SpectorElaineE
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pubmed:issnType |
Electronic
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pubmed:volume |
9
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
719-23
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:18073586-Cell Line,
pubmed-meshheading:18073586-Genetic Testing,
pubmed-meshheading:18073586-Genome, Human,
pubmed-meshheading:18073586-Humans,
pubmed-meshheading:18073586-Huntington Disease,
pubmed-meshheading:18073586-Nerve Tissue Proteins,
pubmed-meshheading:18073586-Nuclear Proteins,
pubmed-meshheading:18073586-Reference Standards,
pubmed-meshheading:18073586-Repetitive Sequences, Nucleic Acid
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pubmed:year |
2007
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pubmed:articleTitle |
Development of genomic reference materials for Huntington disease genetic testing.
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pubmed:affiliation |
Laboratory Practice Evaluation and Genomics Branch, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA. LKalman@cdc.gov
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pubmed:publicationType |
Journal Article
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