Neonatal High Bone Mass With First Mutation Of The NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65)

Heritable disorders that feature high bone mass (HBM) are rare. The etiology is typically a mutation(s) within a gene that regulates the differentiation and function of osteoblasts (OBs) or osteoclasts (OCs). Nevertheless, the molecular basis is unknown for approximately one-fifth of such entities....

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Detalhes bibliográficos
Publicado no:J Bone Miner Res
Main Authors: Frederiksen, Anja L., Larsen, Martin J., Brusgaard, Klaus, Novack, Deborah V., Knudsen, Peter Juel Thiis, Schrøder, Henrik Daa, Qiu, Weimin, Eckhardt, Christina, McAlister, William H., Kassem, Moustapha, Mumm, Steven, Frost, Morten, Whyte, Michael P.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5310715/
https://ncbi.nlm.nih.gov/pubmed/26178921
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.2590
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