Altered cytoskeletal organization characterized lethal but not surviving Brtl(+/−) mice: insight on phenotypic variability in osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a heritable bone disease with dominant and recessive transmission. It is characterized by a wide spectrum of clinical outcomes ranging from very mild to lethal in the perinatal period. The intra- and inter-familiar OI phenotypic variability in the presence of an ident...

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Publicado en:Hum Mol Genet
Autores principales: Bianchi, Laura, Gagliardi, Assunta, Maruelli, Silvia, Besio, Roberta, Landi, Claudia, Gioia, Roberta, Kozloff, Kenneth M., Khoury, Basma M., Coucke, Paul J., Symoens, Sofie, Marini, Joan C., Rossi, Antonio, Bini, Luca, Forlino, Antonella
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2015
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4607742/
https://ncbi.nlm.nih.gov/pubmed/26264579
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv328
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