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Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey

Monogenic autoinflammatory disorders (AIDs) are rare diseases caused by variants in genes regulating the innate immune system. The identification of the first four genes responsible for the prototype group of hereditary recurrent fevers prompted the development of genetic diagnosis, followed by exte...

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Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
Main Authors: Rowczenio, Dorota, Shinar, Yael, Ceccherini, Isabella, Sheils, Katie, Van Gijn, Marielle, Patton, Simon J., Touitou, Isabelle
Format: Artigo
Sprog:Inglês
Udgivet: Springer International Publishing 2019
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777449/
https://ncbi.nlm.nih.gov/pubmed/31186541
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0439-9
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