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Article

Autoregulated Splicing of muscleblind-like 1 (MBNL1) Pre-mRNA

10 Aug 2011

Abstract excerpt

Muscleblind-like 1 (MBNL1) is a splicing factor whose improper cellular localization is a central component of myotonic dystrophy. In myotonic dystrophy, the lack of properly localized MBNL1 leads to missplicing of many pre-mRNAs. One of these events is the aberrant inclusion of exon 5 within the MBNL1 pre-mRNA. The region of the MBNL1 gene that includes exon 5 and flanking intronic sequence is highly conserved...

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PMID: 21832083
DOI: 10.1074/jbc.m111.236547

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