The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway

INTRODUCTION: Mutations in the TNFRSF1A gene, encoding tumor necrosis factor receptor 1 (TNF-R1), are associated with the autosomal dominant autoinflammatory disorder, called TNF receptor associated periodic syndrome (TRAPS). TRAPS is clinically characterized by recurrent episodes of long-lasting fe...

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Detalles Bibliográficos
Autores principales: Greco, Eliana, Aita, Ada, Galozzi, Paola, Gava, Alessandra, Sfriso, Paolo, Negm, Ola H, Tighe, Patrick, Caso, Francesco, Navaglia, Filippo, Dazzo, Emanuela, De Bortoli, Marzia, Rampazzo, Alessandra, Obici, Laura, Donadei, Simona, Merlini, Giampaolo, Plebani, Mario, Todd, Ian, Basso, Daniela, Punzi, Leonardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4416318/
https://www.ncbi.nlm.nih.gov/pubmed/25888769
http://dx.doi.org/10.1186/s13075-015-0604-7

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