A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation

Osteogenesis Imperfecta (OI) type V is characterized by increased bone fragility, long bone deformities, hyperplastic callus formation and calcification of interosseous membranes. It is caused by a recurrent mutation in the 5’ UTR of the IFITM5 gene (c.−14C>T). This mutation introduces an alterna...

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Vydáno v:J Bone Miner Res
Hlavní autoři: Lietman, Caressa D., Marom, Ronit, Munivez, Elda, Bertin, Terry K., Jiang, Ming-Ming, Chen, Yuqing, Dawson, Brian, Weis, MaryAnn, Eyre, David, Lee, Brendan
Médium: Artigo
Jazyk:Inglês
Vydáno: 2015
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4333000/
https://ncbi.nlm.nih.gov/pubmed/25251575
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.2363
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