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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...
Autores principales: | Davies, Janet E., Rubinsztein, David C. |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2011
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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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