INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations
Author(s) -
Cyril Sarrauste de Menthière
Publication year - 2003
Publication title -
nucleic acids research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 9.008
H-Index - 537
eISSN - 1362-4954
pISSN - 0305-1048
DOI - 10.1093/nar/gkg031
Subject(s) - familial mediterranean fever , web site , hereditary diseases , mutation , gateway (web page) , medicine , the internet , bioinformatics , disease , biology , genetics , world wide web , gene , computer science , pathology
We have established the INFEVERS--INternet periodic FEVERS--website (which is freely accessible at http://fmf.igh.cnrs.fr/infevers/). Our objectives were to develop a specialist site to gather updated information on mutations responsible for hereditary inflammatory disorders: i.e. Familial Mediterranean Fever (FMF), TRAPS (TNF Receptor 1A Associated Syndrome), HIDS (HyperIgD Syndrome), MWS (Muckle-Wells Syndrome)/FCU (Familial Cold Urticaria)/CINCA (Chronic Infantile Neurological Cutaneous and Articular Syndrome). Contributors submit their novel mutations through a 3 step form. Depending on the disease concerned, a member of the editorial board is automatically solicited to overview and validate new submissions, via a special secured web interface. If accepted, the new mutation is available on the INFEVERS web site and the discoverer, who is informed by email, is credited by having his/her name and date of the discovery on the site. The INFEVERS gateway provides researchers and clinicians with a common access location for information on similar diseases, allowing a rapid overview of the corresponding genetic defects at a glance. Furthermore, it is interactive and extendable according to the latest genes discovered.
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