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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Detaylı Bibliyografya
Asıl Yazarlar: Noguchi, Satoru, Ogawa, Megumu, Kawahara, Genri, Malicdan, May Christine, Nishino, Ichizo
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2014
Konular:
Original Article
Online Erişim: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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