Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy

Collagen VI gene mutations cause Ullrich and Bethlem muscular dystrophies. Pathogenic mutations frequently have a dominant negative effect, with defects in collagen VI chain secretion and assembly. It is agreed that, conversely, collagen VI haploinsufficiency has no pathological consequences. Thus,...

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Detalhes bibliográficos
Main Authors: Gualandi, Francesca, Manzati, Elisa, Sabatelli, Patrizia, Passarelli, Chiara, Bovolenta, Matteo, Pellegrini, Camilla, Perrone, Daniela, Squarzoni, Stefano, Pegoraro, Elena, Bonaldo, Paolo, Ferlini, Alessandra
Formato: Artigo
Idioma:Inglês
Publicado em: Mary Ann Liebert, Inc. 2012
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3523246/
https://ncbi.nlm.nih.gov/pubmed/22992134
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/hum.2012.109
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