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rdf:type |
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lifeskim:mentions |
umls-concept:C0002085,
umls-concept:C0016667,
umls-concept:C0025663,
umls-concept:C0026882,
umls-concept:C0032520,
umls-concept:C0205251,
umls-concept:C0205314,
umls-concept:C0205547,
umls-concept:C0679622,
umls-concept:C1414649,
umls-concept:C1511790,
umls-concept:C2346714
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pubmed:issue |
3
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|
pubmed:dateCreated |
2010-3-1
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|
pubmed:abstractText |
Fragile X syndrome (FXS) is a trinucleotide-repeat disease caused by the expansion of CGG sequences in the 5' untranslated region of the FMR1 (fragile X mental retardation 1) gene. Molecular diagnoses of FXS and other emerging FMR1 disorders typically rely on 2 tests, PCR and Southern blotting; however, performance or throughput limitations of these methods currently constrain routine testing.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
|
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pubmed:month |
Mar
|
|
pubmed:issn |
1530-8561
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pubmed:author |
pubmed-author:ChenLiangjingL,
pubmed-author:Filipovic-SadicStelaS,
pubmed-author:HaddAndrew GAG,
pubmed-author:HagermanPaul JPJ,
pubmed-author:KrostingJulieJ,
pubmed-author:LathamGary JGJ,
pubmed-author:SahSachinS,
pubmed-author:SekingerEdwardE,
pubmed-author:StenzelTimothy TTT,
pubmed-author:TassoneFloraF,
pubmed-author:ZhangWentingW
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|
pubmed:issnType |
Electronic
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pubmed:volume |
56
|
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pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
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pubmed:pagination |
399-408
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pubmed:dateRevised |
2011-2-18
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pubmed:meshHeading |
|
|
pubmed:year |
2010
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|
pubmed:articleTitle |
A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.
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|
pubmed:affiliation |
Diagnostic Research & Technology Development, Asuragen, Inc., Austin, TX 78744, USA.
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|
pubmed:publicationType |
Journal Article,
Evaluation Studies,
Research Support, N.I.H., Extramural
|
