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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3500529/
https://ncbi.nlm.nih.gov/pubmed/22661645
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/annrheumdis-2011-201271
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