Guidelines for the genetic diagnosis of hereditary recurrent fevers

Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases characterised by recurrent bouts of fever and serosal inflammation that are caused by pathogenic variants in genes important for the regulation of innate immunity. Discovery of the molecular defects responsible for...

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Detalles Bibliográficos
Autores principales: Shinar, Y, Obici, L, Aksentijevich, I, Bennetts, B, Austrup, F, Ceccherini, I, Costa, J M, De Leener, A, Gattorno, M, Kania, U, Kone-Paut, I, Lezer, S, Livneh, A, Moix, I, Nishikomori, R, Ozen, S, Phylactou, L, Risom, L, Rowczenio, D, Sarkisian, T, van Gijn, M E, Witsch-Baumgartner, M, Morris, M, Hoffman, H M, Touitou, I
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Group 2012
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500529/
https://www.ncbi.nlm.nih.gov/pubmed/22661645
http://dx.doi.org/10.1136/annrheumdis-2011-201271

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500529/
https://www.ncbi.nlm.nih.gov/pubmed/22661645
http://dx.doi.org/10.1136/annrheumdis-2011-201271

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