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Article

Splicing biomarkers of disease severity in myotonic dystrophy

8 Aug 2013

Abstract excerpt

OBJECTIVE: To develop RNA splicing biomarkers of disease severity and therapeutic response in myotonic dystrophy type 1 (DM1) and type 2 (DM2). METHODS: In a discovery cohort, we used microarrays to perform global analysis of alternative splicing in DM1 and DM2. The newly identified splicing changes were combined with previous data to create a panel of 50 putative splicing defects. In a validation cohort of 50...

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PMID: 23929620
DOI: 10.1002/ana.23992

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