The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients - Concepedia

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The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients

57

Citations

26

References

2008

Year

Annalisa Botta, Fabrizio Rinaldi, Claudio Catalli, Lodovica Vergani, E. Bonifazi, Vincenzo Maria Romeo, Emanuele Loro, Antonella Viola, C. Angelini, Giuseppe Novelli

Journal of Medical Genetics

Abstract

The CTG repeat length plays a key role in the extent of splicing misregulation and foci formation, thus providing a useful link between the genotype and the molecular cellular phenotype in DM1.

References

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