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Molecular Effects of the CTG Repeats in Mutant Dystrophia Myotonica Protein Kinase Gene

Myotonic Dystrophy type 1 (DM1) is a multi-system disorder characterized by muscle wasting, myotonia, cardiac conduction defects, cataracts, and neuropsychological dysfunction. DM1 is caused by expansion of a CTG repeat in the 3´untranslated region (UTR) of the Dystrophia Myotonica Protein Kinase (D...

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Detalles Bibliográficos
Autores principales: Llamusí, Beatriz, Artero, Ruben
Formato: Texto
Lenguaje:English
Publicado: Bentham Science Publishers Ltd. 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694559/
https://www.ncbi.nlm.nih.gov/pubmed/19516957
http://dx.doi.org/10.2174/138920208786847944