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Muscleblind-Like 1 Knockout Mice Reveal Novel Splicing Defects in the Myotonic Dystrophy Brain
Myotonic dystrophy type 1 (DM1) is a multi-systemic disorder caused by a CTG trinucleotide repeat expansion (CTG(exp)) in the DMPK gene. In skeletal muscle, nuclear sequestration of the alternative splicing factor muscleblind-like 1 (MBNL1) explains the majority of the alternative splicing defects o...
Autores principales: | Suenaga, Koichi, Lee, Kuang-Yung, Nakamori, Masayuki, Tatsumi, Yoshiki, Takahashi, Masanori P., Fujimura, Harutoshi, Jinnai, Kenji, Yoshikawa, Hiroo, Du, Hongqing, Ares, Manuel, Swanson, Maurice S., Kimura, Takashi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3302840/ https://www.ncbi.nlm.nih.gov/pubmed/22427994 http://dx.doi.org/10.1371/journal.pone.0033218 |
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