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An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breed

Duchenne muscular dystrophy (DMD) is a dystrophin-deficient lethal muscle disease. To date, the catastrophic muscle wasting phenotype has only been seen in dystrophin-deficient humans and dogs. While Duchenne-like symptoms have been observed in more than a dozen dog breeds, the mutation is often not...

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Detalles Bibliográficos
Autores principales: Smith, Bruce F., Yue, Yongping, Woods, Philip R., Kornegay, Joe N., Shin, Jin-Hong, Williams, Regina R., Duan, Dongsheng
Formato: Texto
Lenguaje:English
Publicado: 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2999660/
https://www.ncbi.nlm.nih.gov/pubmed/20714321
http://dx.doi.org/10.1038/labinvest.2010.146