A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

BACKGROUND: Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has been described for the four genes associated with the best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A. The Infevers database (http://fmf.igh...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Papa, Riccardo, Doglio, Matteo, Lachmann, Helen J., Ozen, Seza, Frenkel, Joost, Simon, Anna, Neven, Bénédicte, Kuemmerle-Deschner, Jasmin, Ozgodan, Huri, Caorsi, Roberta, Federici, Silvia, Finetti, Martina, Trachana, Maria, Brunner, Jurgen, Bezrodnik, Liliana, Pinedo Gago, Mari Carmen, Maggio, Maria Cristina, Tsitsami, Elena, Al Suwairi, Wafaa, Espada, Graciela, Shcherbina, Anna, Aksu, Guzide, Ruperto, Nicolino, Martini, Alberto, Ceccherini, Isabella, Gattorno, Marco
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5648458/
https://ncbi.nlm.nih.gov/pubmed/29047407
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0720-3
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