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Molecular characterization of the 5′-UTR of retinal dystrophin reveals a cryptic intron that regulates translational activity

PURPOSE: 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 t...

詳細記述

保存先:
書誌詳細
主要な著者: Kubokawa, Ikuko, Takeshima, Yasuhiro, Ota, Mitsunori, Enomoto, Masahiro, Okizuka, Yo, Mori, Takeshi, Nishimura, Noriyuki, Awano, Hiroyuki, Yagi, Mariko, Matsuo, Masafumi
フォーマット: Artigo
言語:Inglês
出版事項: Molecular Vision 2010
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3000234/
https://ncbi.nlm.nih.gov/pubmed/21151598
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