Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts

Ullrich congenital muscular dystrophy (UCMD) is an inherited muscle disorder characterized clinically by muscle weakness, distal joint hyperlaxity, and proximal joint contractures. Sporadic and recessive mutations in the three collagen VI genes, COL6A1, COL6A2, and COL6A3, are reported to be causati...

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Detalles Bibliográficos
Autores principales: Noguchi, Satoru, Ogawa, Megumu, Kawahara, Genri, Malicdan, May Christine, Nishino, Ichizo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078762/
https://www.ncbi.nlm.nih.gov/pubmed/24959844
http://dx.doi.org/10.1038/mtna.2014.22

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