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Over-expression of BCL2 rescues muscle weakness in a mouse model of oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscular dystrophy caused by a polyalanine expansion mutation in the coding region of the poly-(A) binding protein nuclear 1 (PABPN1) gene. In unaffected individuals, (GCG)(6) encodes the first 6 alanines in a homopolymeric stretch of 10 alan...

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Detalles Bibliográficos
Autores principales: Davies, Janet E., Rubinsztein, David C.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3043663/
https://www.ncbi.nlm.nih.gov/pubmed/21199860
http://dx.doi.org/10.1093/hmg/ddq559

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