Article
The infevers autoinflammatory mutation online registry: update with new genes and functions.
Human mutation - 1 Jun 2008
Milhavet Florian, Cuisset Laurence, Hoffman Hal M, Slim Rima, El-Shanti Hatem, Aksentijevich Ivona, Lesage Suzanne, Waterham Hans, Wise Carol, Sarrauste de Menthiere Cyril, Touitou Isabelle
Abstract excerpt
Infevers (Internet Fevers; http://fmf.igh.cnrs.fr/ISSAID/infevers), a website dedicated to mutations responsible for hereditary autoinflammatory diseases, was created in 2002 and has continued to evolve. This new version includes eight genes; six were already present: MEFV, MVK, TNFRSF1A, NLRP3, NOD2, PSTPIP1, and two are new, LPIN2 and NLRP7. Currently, Infevers contains over 540 sequence variants. Several new...
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