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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Detalhes bibliográficos
Main Authors: Noguchi, Satoru, Ogawa, Megumu, Kawahara, Genri, Malicdan, May Christine, Nishino, Ichizo
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4078762/
https://ncbi.nlm.nih.gov/pubmed/24959844
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/mtna.2014.22
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