Article
Allele-specific gene silencing in osteogenesis imperfecta.
Endocrine development - 1 Jan 2011
Ljunggren Östen, Lindahl Katarina, Rubin Carl-Johan, Kindmark Andreas
Abstract excerpt
OI is caused by mutations in the genes encoding for collagen type I COL1A1 and COL1A2, respectively. The patients suffer from bone fragility, and the severity can range from mild, with fractures in the youth, to lethal forms. Today, there is no effective treatment for the disorder. OI is caused by dominant negative mutations. A tempting approach to treat the disease would be to silence the allele carrying the...
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