Source:http://linkedlifedata.com/resource/pubmed/id/21430544
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
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pubmed:dateCreated |
2011-6-9
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pubmed:abstractText |
Fragile X syndrome is associated with the expansion of CGG trinucleotide repeats and subsequent methylation of the FMR1 gene. Molecular diagnosis of fragile X currently requires Southern blot analysis to assess methylation. This study describes the evaluation of a polymerase chain reaction-only workflow for the determination of methylation status across a broad range of FMR1 genotypes in male and female specimens.
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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 |
Jun
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pubmed:issn |
1530-0366
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
13
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
528-38
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pubmed:meshHeading |
pubmed-meshheading:21430544-Blotting, Southern,
pubmed-meshheading:21430544-Cell Line,
pubmed-meshheading:21430544-DNA Methylation,
pubmed-meshheading:21430544-Female,
pubmed-meshheading:21430544-Fragile X Mental Retardation Protein,
pubmed-meshheading:21430544-Fragile X Syndrome,
pubmed-meshheading:21430544-Humans,
pubmed-meshheading:21430544-Male,
pubmed-meshheading:21430544-Mutation,
pubmed-meshheading:21430544-Polymerase Chain Reaction
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pubmed:year |
2011
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pubmed:articleTitle |
High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.
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pubmed:affiliation |
Diagnostic Research and Technology Development, Asuragen, Inc, Austin, Texas, USA.
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pubmed:publicationType |
Journal Article,
Evaluation Studies,
Research Support, N.I.H., Extramural
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