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MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1

The expression and function of the skeletal muscle chloride channel CLCN1/ClC-1 is regulated by alternative splicing. Inclusion of the CLCN1 exon 7A is aberrantly elevated in myotonic dystrophy (DM), a genetic disorder caused by the expansion of a CTG or CCTG repeat. Increased exon 7A inclusion lead...

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Detalles Bibliográficos
Autores principales:	Kino, Yoshihiro, Washizu, Chika, Oma, Yoko, Onishi, Hayato, Nezu, Yuriko, Sasagawa, Noboru, Nukina, Nobuyuki, Ishiura, Shoichi
Formato:	Texto
Lenguaje:	English
Publicado:	Oxford University Press 2009
Materias:	Molecular Biology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770659/ https://www.ncbi.nlm.nih.gov/pubmed/19720736 http://dx.doi.org/10.1093/nar/gkp681

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