|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0026845,
umls-concept:C0027126,
umls-concept:C0030705,
umls-concept:C0035687,
umls-concept:C0179630,
umls-concept:C0205341,
umls-concept:C0243067,
umls-concept:C0332307,
umls-concept:C0456389,
umls-concept:C1441672,
umls-concept:C1705968,
umls-concept:C1995013
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|
pubmed:issue |
10
|
|
pubmed:dateCreated |
2008-10-6
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|
pubmed:abstractText |
Myotonic dystrophy type 1 is caused by an unstable (CTG)n repetition located in the 3'UTR of the DM protein kinase gene (DMPK). Untranslated expanded DMPK transcripts are retained in ribonuclear foci which sequester CUG-binding proteins essential for the maturation of pre-mRNAs.
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pubmed:language |
eng
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pubmed:journal |
|
|
pubmed:citationSubset |
IM
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pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Oct
|
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pubmed:issn |
1468-6244
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|
pubmed:author |
|
|
pubmed:issnType |
Electronic
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pubmed:volume |
45
|
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pubmed:owner |
NLM
|
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pubmed:authorsComplete |
Y
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pubmed:pagination |
639-46
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pubmed:meshHeading |
pubmed-meshheading:18611984-Adolescent,
pubmed-meshheading:18611984-Adult,
pubmed-meshheading:18611984-Exons,
pubmed-meshheading:18611984-Gene Expression,
pubmed-meshheading:18611984-Humans,
pubmed-meshheading:18611984-In Situ Hybridization, Fluorescence,
pubmed-meshheading:18611984-Middle Aged,
pubmed-meshheading:18611984-Muscle, Skeletal,
pubmed-meshheading:18611984-Myotonic Dystrophy,
pubmed-meshheading:18611984-Protein-Serine-Threonine Kinases,
pubmed-meshheading:18611984-RNA,
pubmed-meshheading:18611984-RNA Splicing,
pubmed-meshheading:18611984-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:18611984-Trinucleotide Repeat Expansion
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|
pubmed:year |
2008
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|
pubmed:articleTitle |
The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients.
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|
pubmed:affiliation |
Tor Vergata University of Rome, Department of Biopathology, Via Montpellier, 1, 00133 Rome, Italy. abottait@yahoo.it
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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