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pubmed-article:21151598pubmed:dateCreated2010-12-14lld:pubmed
pubmed-article:21151598pubmed:abstractTextMutations 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.lld:pubmed
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pubmed-article:21151598pubmed:year2010lld:pubmed
pubmed-article:21151598pubmed:articleTitleMolecular characterization of the 5'-UTR of retinal dystrophin reveals a cryptic intron that regulates translational activity.lld:pubmed
pubmed-article:21151598pubmed:affiliationDepartment of Pediatrics, Graduate School of Medicine, Kobe University, Kobe, Japan.lld:pubmed
pubmed-article:21151598pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:21151598pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
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