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Hypermineralization and high osteocyte lacunar density in osteogenesis imperfecta type V bone indicate exuberant primary bone formation

In contrast to “classical” forms of Osteogenesis imperfecta (OI) types I to IV, caused by a mutation in COL1A1/A2, OI type V is due to a gain-of-function mutation in the IFITM5 gene, encoding the interferon-induced transmembrane protein 5, or bone-restricted ifitm-like protein (BRIL). Its phenotype...

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Detalhes bibliográficos
Publicado no:J Bone Miner Res
Main Authors: Blouin, Stéphane, Fratzl-Zelman, Nadja, Glorieux, Francis H, Roschger, Paul, Klaushofer, Klaus, Marini, Joan C., Rauch, Frank
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5555797/
https://ncbi.nlm.nih.gov/pubmed/28548288
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.3180
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