Genome Wide Identification of Aberrant Alternative Splicing Events in Myotonic Dystrophy Type 2

Myotonic dystrophy type 2 (DM2) is a genetic, autosomal dominant disease due to expansion of tetraplet (CCTG) repetitions in the first intron of the ZNF9/CNBP gene. DM2 is a multisystemic disorder affecting the skeletal muscle, the heart, the eye and the endocrine system. According to the proposed p...

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Detalhes bibliográficos
Main Authors: Perfetti, Alessandra, Greco, Simona, Fasanaro, Pasquale, Bugiardini, Enrico, Cardani, Rosanna, Manteiga, Jose M. Garcia., Riba, Michela, Cittaro, Davide, Stupka, Elia, Meola, Giovanni, Martelli, Fabio
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3983107/
https://ncbi.nlm.nih.gov/pubmed/24722564
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0093983
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