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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2010-12-14
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pubmed:abstractText |
Mutations in the dystrophin (DMD) gene cause Duchenne or Becker muscular dystrophy (DMD/BMD). DMD contains a retina-specific promoter in intron 29. The short R-dystrophin transcript from this promoter has a retina-specific exon 1 (R1) joined to exon 30 of the DMD gene. It has been claimed that this is responsible for the ophthalmological problems observed in DMD/BMD. This research characterizes the structure of the 5'-untranslated region (5'-UTR) of human R-dystrophin.
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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:issn |
1090-0535
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
16
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2590-7
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pubmed:meshHeading |
pubmed-meshheading:21151598-5' Untranslated Regions,
pubmed-meshheading:21151598-Alternative Splicing,
pubmed-meshheading:21151598-Base Sequence,
pubmed-meshheading:21151598-Dystrophin,
pubmed-meshheading:21151598-Exons,
pubmed-meshheading:21151598-Gene Expression Profiling,
pubmed-meshheading:21151598-Genome, Human,
pubmed-meshheading:21151598-HEK293 Cells,
pubmed-meshheading:21151598-Humans,
pubmed-meshheading:21151598-Introns,
pubmed-meshheading:21151598-Molecular Sequence Data,
pubmed-meshheading:21151598-Protein Biosynthesis,
pubmed-meshheading:21151598-RNA, Messenger,
pubmed-meshheading:21151598-Retina,
pubmed-meshheading:21151598-Reverse Transcriptase Polymerase Chain Reaction
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pubmed:year |
2010
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pubmed:articleTitle |
Molecular characterization of the 5'-UTR of retinal dystrophin reveals a cryptic intron that regulates translational activity.
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pubmed:affiliation |
Department of Pediatrics, Graduate School of Medicine, Kobe University, Kobe, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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