The Unstable CCTG Repeat Responsible for Myotonic Dystrophy Type 2 Originates from an AluSx Element Insertion into an Early Primate Genome

Myotonic dystrophy type 2 (DM2) is a subtype of the myotonic dystrophies, caused by expansion of a tetranucleotide CCTG repeat in intron 1 of the zinc finger protein 9 (ZNF9) gene. The expansions are extremely unstable and variable, ranging from 75–11,000 CCTG repeats. This unprecedented repeat size...

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Detalles Bibliográficos
Autores principales: Kurosaki, Tatsuaki, Ueda, Shintaroh, Ishida, Takafumi, Abe, Koji, Ohno, Kinji, Matsuura, Tohru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3378579/
https://www.ncbi.nlm.nih.gov/pubmed/22723857
http://dx.doi.org/10.1371/journal.pone.0038379

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