A Novel IFITM5 Mutation in Severe Atypical Osteogenesis Imperfecta Type VI Impairs Osteoblast Production of Pigment Epithelium-Derived Factor

Osteogenesis imperfecta (OI) types V and VI are caused, respectively, by a unique dominant mutation in IFITM5, encoding BRIL, a transmembrane ifitm-like protein most strongly expressed in the skeletal system, and recessive null mutations in SERPINF1, encoding pigment epithelium-derived factor (PEDF)...

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Detalhes bibliográficos
Publicado no:J Bone Miner Res
Main Authors: Farber, Charles R, Reich, Adi, Barnes, Aileen M, Becerra, Patricia, Rauch, Frank, Cabral, Wayne A, Bae, Alison, Quinlan, Aaron, Glorieux, Francis H, Clemens, Thomas L, Marini, Joan C
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4352343/
https://ncbi.nlm.nih.gov/pubmed/24519609
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.2173
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