PW02-005 - A web registry of genotype-phenotype correlation
نویسندگان
چکیده
Introduction the possible range of clinical manifestations associated to the different mutations associated to autoinflammatory disorders is still largely unknown. A registry of hereditary auto-inflammatory disorders mutations is available on the web (Infevers, http://fmf.igh.cnrs.fr/ISSAID/infevers/). This registry gathers updated information on all mutations responsible for hereditary inflammatory disorders. The clinical phenotype associated with the single mutation in the first reported case is also available.
منابع مشابه
PW02-022 - Recurrent fever syndromes: multiple gene mutations
Methods Seventy-seven centres from 33 countries have been contributing to an international secured web-based registry for autoinflammatory diseases (EUROFEVER), hosted by the PRINTO website (Paediatric Rheumatology International Trial Organisation, http://www.printo.it). The registry collects anonymised demographic, clinical, laboratory and molecular genetic data on patients with autoinflammato...
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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.cnrs.fr/ISSAID/infevers ) is a large international registry collecting variants reported in thes...
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